Neuromuscular and Developmental Delay

1-844-363-4357· [email protected]
Schillingallee 68 · 18057 Rostock Germany
British Columbia Laboratory Requisition
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Page 1/12
The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited.
Requisition V3 Oct2014
1-844-363-4357· [email protected]
GENETIC TESTING REQUISITION
NEUROMUSCULAR & DEVELOPMENTAL DELAY
Patient Name:
Sample Type:
Schillingallee 68 · 18057 Rostock Germany
Patient DOB (YYYY/MM/DD):
□ *Blood (EDTA: 5mL for single gene, 10mL for panel)
□ DNA (single gene:1-10ug, panel 10-100ug)
□ *Filter card (1 card/30 exons: Available by request)
□ Saliva (Oragene OG-510: Available by request)
□ Fibroblast/Skin Biopsy (0.5cm )
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□ **Amniotic fluid (10mL)
□ **Chorionic Villus (10 villi, cleaned)
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2
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Page 2/12
The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited.
Requisition V3 Oct2014
1-844-363-4357· [email protected]
GENETIC TESTING REQUISITION
NEUROMUSCULAR & DEVELOPMENTAL DELAY
Patient Name:
Schillingallee 68 · 18057 Rostock Germany
Patient DOB (YYYY/MM/DD):
Please indicate requests for Hot Spot (H), Exon (E), Sequencing (S), Repeat Expansion (R) and/or Deletion/Duplication (D) analysis
Hereditary Polyneuropathies & ALS
NGS Panels:
Amyotrophic lateral sclerosis (ALS) panel
D
S
D
S
D
S
CMT neuropathy axonal autosomal
dominant panel
CMT neuropathy demyelinating panel
D
S
Dejerine-Sottas syndrome panel
(ALS2, ANG, ATXN2, C9orf72, CHMP2B, CHGB, DCTN1, FIG4, FUS, NEFH, OPTN, PFN1, PRPH2, SETX, SIGMAR1, SOD1, SPG20,
TARDBP, UBQLN2, VAPB, VCP, VEGFA, VPS54)
(AARS, ARHGEF10, DNM2, GAN, GARS, GDAP1, DYNC1H1, HSPB8, HSPB1, KIF1B, LMNA, MED25, MFN2, MPZ, NEFL, RAB7A,
SLC12A6, TRPV4, YARS)
(CTDP1, EGR2, FGD4, FIG4, GDPA1, GJB1, LITAF, MTMR2, MPZ, NDRG1, NEFL, PMP22, PRPS1, PRX, SBF2, SH3TC2)
(MPZ, PMP22, PRX, EGR2, GJB1)
Single genes:
E
H
H
H
H
H
H
H
D
S
Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6)
D
S
Charcot Marie Tooth type 4-CTDP1 related (CTDP1)
D
S
Amyloidosis (TTR)
D
S
Charcot Marie Tooth type 4A (GDAP1)
D
S
Amyloidosis, finnish type (GSN)
D
S
Charcot Marie Tooth type 4B1 (MTMR2)
D
S
Amyotrophic lateral sclerosis CREST related (SS18L1)
D
S
Charcot Marie Tooth type 4B2 (SBF2)
D
S
Amyotrophic lateral sclerosis risk factor (CHGB)
D
S
Charcot Marie Tooth type 4C (SH3TC2)
D
S
Amyotrophic lateral sclerosis type 1 (SOD1)
D
S
Charcot Marie Tooth type 4D (NDRG1)
D
S
Amyotrophic lateral sclerosis type 2 (ALS2)
D
S
Charcot Marie Tooth type 4E (EGR2)
D
S
Amyotrophic lateral sclerosis type 4 (SETX)
H
D
S
Charcot Marie Tooth type 4E (MPZ)
D
S
Amyotrophic lateral sclerosis type 6 (FUS)
H
D
S
Charcot Marie Tooth type 4F (PRX)
D
S
Amyotrophic lateral sclerosis type 8 (VAPB)
D
S
Charcot Marie Tooth type 4H (FGD4)
D
S
Amyotrophic lateral sclerosis type 9 (ANG)
D
S
Charcot Marie Tooth type 4J (FIG4)
D
S
Amyotrophic lateral sclerosis type 10 (TARDBP)
D
S
Charcot Marie Tooth type X1 (GJB1)
D
S
Amyotrophic lateral sclerosis type 11 (FIG4)
H
D
S
Charcot Marie Tooth type X5 (PRPS1)
D
S
S
S
S
S
S
S
H
H
H
D
D
D
D
D
D
R
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
Amyotrophic lateral sclerosis type 12 (OPTN)
Amyotrophic lateral sclerosis type 14 (VCP)
Amyotrophic lateral sclerosis type 16 (SIGMAR1)
Amyotrophic lateral sclerosis type 17 (CHMP2B)
Amyotrophic lateral sclerosis type 18 (PFN1)
Amyotrophic lateral sclerosis VPS54 related (VPS54)
Amyotrophic lateral sclerosis with frontotemporal dementia (C9orf72)
Amyotrophic lateral sclerosis, susceptibility to (NEFH)
Amyotrophic lateral sclerosis, x-linked juvenile and adult-onset ALS (UBQLN2)
Cataracts with facial dysmorphism and neuropathy (CTDP1)
Charcot MarieTooth disease, dominant intermediate (GNB4)
Charcot MarieTooth disease, dominant intermediate B (DNM2)
Charcot MarieTooth disease, dominant intermediate C (YARS)
Charcot MarieTooth disease, dominant intermediate D (MPZ)
Charcot Marie Tooth type 1A (PMP22)
Charcot Marie Tooth type 1B (MPZ)
Charcot Marie Tooth type 1C (LITAF)
Charcot Marie Tooth type 1D (EGR2)
Charcot Marie Tooth type 1E (PMP22)
Charcot Marie Tooth type 1F (NEFL)
Charcot Marie Tooth type 2, unclassified (AARS)
Charcot Marie Tooth type 2A1 (KIF1B)
Charcot Marie Tooth type 2A2 (MFN2)
Charcot Marie Tooth type 2B (RAB7A)
Charcot Marie Tooth type 2B1 (LMNA)
Charcot Marie Tooth type 2B2 (MED25)
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
Dejerine-Sottas disease (MPZ)
Dejerine-Sottas disease (PMP22)
Dejerine-Sottas disease (PRX)
Dejerine-Sottas disease (EGR2)
Dejerine-Sottas disease (GJB1)
Distal hereditary motor neuropathy type 2A (HSPB8)
Distal hereditary motor neuropathy type 2B (HSPB1)
Distal hereditary motor neuropathy type 5 (GARS)
Distal hereditary motor neuropathyr type 6 (IGHMBP2)
Distal hereditary motor neuropathy type 7B (DCTN1)
Distal hereditary motor neuropathy, X linked (ATP7A)
Distal hereditary motor neuropathy, autosomal recessive (DNAJB2)
Erythermalgia, primary (SCN9A)
Facial paresis type 3 (HOXB1)
Giant axonal neuropathy (GAN)
Hereditary neuralgic amyotrophy (SEPT9)
Hereditary sensory neuropathy type IE (DNMT1)
Hereditary sensory and autonomic neuropathy type 1 (SPTLC1)
Hereditary sensory and autonomic neuropathy type 2 (SCN9A)
Hereditary sensory and autonomic neuropathy type 2A (WNK1)
Hereditary sensory and autonomic neuropathy type 2B (FAM134B)
Hereditary sensory and autonomic neuropathy type 3 (IKBKAP)
Hereditary sensory and autonomic neuropathy type 4 (NTRK1)
Hereditary sensory and autonomic neuropathy type 5 (NGF)
Hereditary sensory and autonomic neuropathy type 2C (KIF1A)
Neurodegeneration due to cerebral folate transport deficiency (FOLR1)
D
S
Charcot Marie Tooth type 2C (TRPV4)
H
D
S
D
S
D
S
D
D
D
D
D
S
S
S
S
S
D
D
D
D
D
S
S
S
S
S
D
S
D
S
D
S
D
S
Charcot Marie Tooth type 2D (GARS)
Charcot Marie Tooth type 2E (NEFL)
Charcot Marie Tooth type 2F (HSPB1)
Charcot Marie Tooth type 2I (MPZ)
Charcot Marie Tooth type 2J (MPZ)
Charcot Marie Tooth type 2K (GDAP1)
H
H
H
H
H
Charcot Marie Tooth type 2L (HSPB8)
Charcot Marie Tooth type 2O (DYNC1H1)
Page 3/12
Neuropathy with liability to pressure palsies [HNPP] (PMP22)
Neuropathy with sensory ataxic, dysarthria and progressive external
opthalmoplegia (C10ORF2)
Roussy-Levy syndrome (PMP22)
Slowed nerve conduction velocity autosomanal dominant (ARHGEF10)
Spastic ataxia, autosomal dominant (VAMP1)
Spinal muscular atrophy, distal, autosomal recessive type 4 (PLEKHG5)
Spinocerebellar ataxia with axonal neuropathy, autosomal recessive (TDP1)
Thiamine metabolism dysfunction syndrome 4 progressive polyneuropathy
type (SLC25A19)
46,XY, Partial gonadal dysgenesis with minifascicular neuropathy (DHH)
The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited.
Requisition V3 Oct2014
1-844-363-4357· [email protected]
GENETIC TESTING REQUISITION
NEUROMUSCULAR & DEVELOPMENTAL DELAY
Patient Name:
Schillingallee 68 · 18057 Rostock Germany
Patient DOB (YYYY/MM/DD):
Hereditary Spastic Paraplegias
NGS Panels:
D
S
D
S
Spastic paraplegia panel, autosomal dominant
Spastic paraplegia panel, autosomal recessive
(ATL1, BSCL2, HSPD1, KIAA0196, KIF5A, NIPA1, REEP1, R N2, SLC33A1, SPAST, ZFYVE27)
(AP4M1, CYP2U1, CYP7B1, DDHD1, FA2H, GJC2, KIF1A, PNPLA6, SPG11, SPG20, SPG21, SPG7, ZFYVE26)
Single genes:
H
D
S
Spastic paraplegia type 5A, autosomal recessive (CYP7B1)
H
D
S
Spastic paraplegia type 3A, autosomal dominant (ATL1)
H
D
S
Spastic paraplegia type 7, autosomal recessive (SPG7)
H
D
S
Spastic paraplegia type 4, autosomal dominant (SPAST)
H
D
S
Spastic paraplegia type 11, autosomal recessive (SPG11)
H
D
S
Spastic paraplegia type 6, autosomal dominant (NIPA1)
D
S
Spastic paraplegia type 15, autosomal recessive (ZFYVE26)
D
S
Spastic paraplegia type 8, autosomal dominant (KIAA0196)
H
D
S
Spastic paraplegia type 20, autosomal recessive (SPG20)
D
S
Spastic paraplegia type 10, autosomal dominant (KIF5A)
H
D
S
Spastic paraplegia type 21, autosomal recessive (SPG21)
D
S
Spastic paraplegia type 12, autosomal dominant (RTN2)
D
S
Spastic paraplegia type 28, autosomal recessive (DDHD1)
H
D
S
Spastic paraplegia type 13, autosomal dominant (HSPD1)
H
D
S
Spastic paraplegia type 30, autosomal recessive (KIF1A)
H
D
S
Spastic paraplegia type 17, autosomal dominant (BSCL2)
H
D
S
Spastic paraplegia type 35, autosomal recessive (FA2H)
D
S
Spastic paraplegia type 31, autosomal dominant (REEP1)
H
D
S
Spastic paraplegia type 39, autosomal recessive (PNPLA6)
H
D
S
Spastic paraplegia type 33, autosomal dominant (ZFYVE27)
D
S
Spastic paraplegia type 44, autosomal recessive (GJC2)
H
D
S
Spastic paraplegia type 42, autosomal dominant (SLC33A1)
D
S
Spastic paraplegia type 47, autosomal recessive (AP4B1)
D
S
Spastic paraplegia type 1, X-linked (L1CAM)
D
S
Spastic paraplegia type 50, autosomal recessive (AP4M1)
D
S
Spastic paraplegia type 2, X-linked (PLP1)
D
S
Spastic paraplegia type 56, autosomal recessive (CYP2U1)
H
Non-Ataxic Movement Disorders
NGS Panels:
D
S
D
S
Dystonia panel
Dopa-Responsive Dystonia panel
D
S
Parkinsons disease panel
(TOR1A, THAP1, GCH1, TH, SPR, SLC2A1, CIZ1, PRRT2, PNKD)
(GCH1, SPR,TH)
(SNCA, LRRK2, VPS35, PARK2, PINK1, PARK7, ATP13A2, PLA2G6, FBXO7, DNAJC6)
Single genes:
H
H
D
S
Cervical dystonia (CIZ1)
S
D
Chorea, hereditary benign (NKX2-1)
E
D
S
S
D
Choreoacanthocytosis (VPS13A)
H
S
D
Dystonia, juvenile-onset (ACTB)
E
S
D
Dystonia, DOPA-responsive, autosomal recessive (SPR)
D
S
Mirror movements, congenital (RAD51)
S
D
Dystonia 1 (TOR1A)
S
D
Paroxysmal nonkinesigenic dyskinesia (PNKD)
S
D
Dystonia 3 (TAF1)
H
S
D
Parkinson Disease, PARK1, autosomal dominant (SNCA)
S
D
Dystonia 4 (TUBB4A)
H
S
D
Parkinson Disease, PARK2, autosomal recessive (PARK2)
S
D
Dystonia 5A (GCH1)
S
D
Parkinson Disease, PARK5, autosomal dominant (UCHL1)
S
D
Dystonia 5A (TH)
S
D
Parkinson Disease, PARK6, autosomal recessive (PINK1)
S
D
Dystonia 6 (THAP1)
S
D
Parkinson Disease, PARK7, autosomal recessive (PARK7)
S
D
Dystonia 8 (SLC2A1)
S
D
Parkinson Disease, PARK8, autosomal dominant (LRRK2)
S
D
Dystonia 10 (PRRT2)
S
D
Parkinson Disease, PARK9, autosomal recessive (ATP13A2)
S
D
Dystonia 11 (SGCE)
S
D
Parkinson Disease, PARK14, autosomal recessive (PLA2G6)
S
D
Dystonia 12 (ATP1A3)
S
D
Parkinson Disease, PARK15, autosomal recessive (FBXO7)
S
D
Dystonia 16 (PRKRA)
S
D
Parkinson Disease, PARK19, autosomal recessive (DNAJC6)
S
D
Dystonia 18 (SLC2A1)
S
D
Parkinson Disease, PARK13, autosomal dominant (HTRA2)
S
D
Dystonia 24 (ANO3)
S
D
Parkinson Disease, PARK17, autosomal dominant (VPS35)
S
D
Dystonia 25 (GNAL)
S
D
Parkinson Disease, PARK20, autosomal recessive (SYNJ1)
S
D
Dyskinesia, familial, with facial myokymia (ADCY5)
S
D
Parkinsonism-Dystonia, infantile (SLC6A3)
R
Essential hereditary tremor type 4 (FUS)
Huntington disease (HTT)
S
R
Huntington disease-like type 1 (PRNP)
Huntington disease-like type 2 (JPH3)
Dementias
NGS Panels:
D
S
R
S
D
S
Alzheimer dementia and dementia panel
Dementia panel
Frontotemporal dementia panel
(APOE, APP, PRNP, PSEN1, PSEN2, SORL1, TREM2)
(APOE, APP, C9 rf72, CHMP2B, CSF1R, FUS, GRN, MAPT, PRNP, PSEN1, PSEN2, SORL1, TARDBP, TREM2, UBE3A, VCP)
(CHMP2B, GRN, VCP, FUS, TARDBP, C9orf72 , MAPT, SIGMAR1, UBQLN2)
Single genes:
H
D
S
Alzheimer disease type 1 (APP)
D
S
Alzheimers disease, early onset, autosomal dominant (SORL1)
D
S
Alzheimer disease type 3 (PSEN1)
D
S
Angelman syndrome (UBE3A)
D
S
Alzheimer disease type 4 (PSEN2)
D
Page 4/12
Angelman syndrome (chr. 15q11)
The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited.
Requisition V3 Oct2014
1-844-363-4357· [email protected]
GENETIC TESTING REQUISITION
NEUROMUSCULAR & DEVELOPMENTAL DELAY
Patient Name:
Schillingallee 68 · 18057 Rostock Germany
Patient DOB (YYYY/MM/DD):
Dementias (continued)
H
D
S
Cerebral amyloid angiopathy (CST3)
D
S
Dementia, frontotemporal (TARDBP)
D
S
Creutzfeldt-Jakob disease (PRNP)
H
D
S
Dementia, frontotemporal (PSEN1)
D
S
Creutzfeldt-Jakob disease, resistance to (HLA-DQA1)
H
D
S
Fatal familial imsomnia (PRNP)
D
S
Creutzfeldt-Jakob disease, resistance to (HLA-DQB1)
H
D
S
Gerstmann-Straussler disease (PRNP)
D
S
D
S
Peripheral demyelinating neuropathy Waardenburg syndrome & Hirschsprung
disease (SOX10)
D
S
D
S
Pick disease (PSEN1)
Dementia, frontotemporal (GRN)
Dementia, frontotemporal (MAPT)
Ataxias and Trinucleotide Expansion Diseases
NGS Panels:
D
S
D
S
D
S
R
S
Cerebellar ataxia panel
Episodic ataxia panel
Familial hemiplegic migraine panel
SCA panel
(ADCK3, APTX, COQ2, COQ9, DNMT1, FXN, PDSS1, PDSS2, POLG, SACS, SETX, SYNE1, TTPA, VLDLR)
(CACNA1A, CACNB4, KCNA1, SLC1A3)
(ATP1A2, CACNA1A, SCN1A)
(ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, ATXN10, BEAN1, ATN1, CACNA1A, NOP56, PPP2R2B, TBP, AFG3L2, DNMT1, FGF14, IFRD1,
ITPR1, KCNC3, KCND3, PDYN, PRKCG, SPTBN2, TGM6, TTBK2, VAMP1)
Single genes:
E
E
H
H
E
R
Amyotrophic lateral sclerosis with frontotemporal dementia (C9orf72)
D
S
Salih ataxia (KIAA0226)
D
S
Ataxia and muscle hypotonia (COX20)
D
S
Spastic ataxia Charlevoix-Saguenay type (SACS)
D
S
Ataxia-oculomotor apraxia type 1 (APTX)
D
S
Ataxia-oculomotor apraxia type 2 (SETX)
D
S
Spinocerebellar ataxia infantile-onset (C10ORF2)
D
S
Ataxia-oculomotor apraxia type 3 (PIK3R5)
D
S
Spinocerebellar ataxia type 7, autosomal recessive (TPP1)
D
S
Ataxia, posterior column, with retinitis pigmentosa (FLVCR1)
D
S
Spinocerebellar ataxia type 9, autosomal rececssive (ADCK3)
D
S
Ataxia-telangiectasia (ATM)
D
S
Spinocerebellar ataxia type 10, autosomal recessive (ANO10)
D
S
Ataxia telangiectasia like disorder (MRE11A)
D
S
Spinocerebellar ataxia type 13, autosomal recessive (GRM1)
D
S
Cerebellar ataxia (CP)
E
R
Spinocerebellar ataxia type 1, autosomal dominant (ATXN1)
D
S
Cerebellar ataxia, autosomal recessive (SYNE1)
E
R
Spinocerebellar ataxia type 2, autosomal dominant (ATXN2)
D
S
Cerebellar ataxia with deafness and narcolepsy, autosomal recessive (DNMT1)
E
R
D
S
D
S
Cerebellar ataxia with spasticity (GBA2)
Cerebellar ataxia with mental retardation and disequilibrium syndrome type 2
(WDR81)
D
S
Coenzyme Q10 deficiency type 1 (COQ2)
E
R
Spinocerebellar ataxia type 6, autosomal dominant (CACNA1A)
D
S
Coenzyme Q10 deficiency type 2 (PDSS1)
E
R
Spinocerebellar ataxia type 7, autosomal dominant (ATXN7)
D
S
Coenzyme Q10 deficiency type 3 (PDSS2)
E
R
Spinocerebellar ataxia type 8, autosomal dominant (ATXN8)
D
S
Coenzyme Q10 deficiency type 5 (COQ9)
E
R
R
R
Spinocerebellar ataxia type 3, autosomal dominant (ATXN3)
D
S
D
S
D
Dentatorubral-pallidoluysian atrophy (ATN1)
Spinal and bulbar muscular atrophy X-linked (AR)
Spinocerebellar ataxia type 4, autosomal dominant (PLEKHG4)
Spinocerebellar ataxia type 5, autosomal dominant (SPTBN2)
Spinocerebellar ataxia type 10, autosomal dominant (ATXN10)
S
S
Episodic ataxia type 1 (KCNA1)
D
S
Episodic ataxia type 2 (CACNA1A)
D
S
Spinocerebellar ataxia type 13, autosomal dominant (KCNC3)
D
S
Episodic ataxia type 5 (CACNB4)
D
S
Spinocerebellar ataxia type 14, autosomal dominant (PRKCG)
D
S
Episodic ataxia type 6 (SLC1A3)
D
S
Spinocerebellar ataxia type 15, autosomal dominant (ITPR1)
D
S
Familial hemiplegic migraine type 1 (CACNA1A)
D
S
Familial hemiplegic migraine type 2 (ATP1A2)
D
S
Spinocerebellar ataxia type 18, autosomal dominant (IFRD1)
D
S
Familial hemiplegic migraine type 3 (SCN1A)
D
S
Spinocerebellar ataxia type 22, autosomal dominant (KCND3)
R
S
Fragile X syndrome (FMR1)
R
S
Spinocerebellar ataxia type 23, autosomal dominant (PDYN)
R
S
Friedreich ataxia (FXN)
D
S
Spinocerebellar ataxia type 27, autosomal dominant (FGF14)
Huntington disease (HTT)
D
S
Spinocerebellar ataxia type 28, autosomal dominant (AFG3L2)
Huntington disease-like type 1 (PRNP)
D
S
Spinocerebellar ataxia type 29, autosomal dominant (ITPR1)
R
S
R
D
E
E
Huntington disease-like type 2 (JPH3)
S
E
R
Spinocerebellar ataxia type 11, autosomal dominant (TTBK2)
D
H
E
E
R
Spinocerebellar ataxia type 17, autosomal dominant (TBP)
R
D
Infantile neuroaxonal dystrophy type I (PLA2G6)
Spinocerebellar ataxia type 12, autosomal dominant (PPP2R2B)
Spinocerebellar ataxia type 31, autosomal dominant (BEAN1)
S
R
Myotonic dystrophy type 1 (DMPK)
E
R
Myotonic dystrophy type 2 (CNBP)
D
S
Spinocerebellar ataxia with axonal neuropathy, autosomal recessive (TDP1)
Muscular dystrophy, oculopharyngeal (PABPN1)
D
S
Vitamin E familial deficiency (TTPA)
R
S
E
R
Spinocerebellar ataxia type 35, autosomal dominant (TGM6)
E
Spinocerebellar ataxia type 36, autosomal dominant (NOP56)
Muscular Disorders
NGS Panels:
S
Bethlem myopathy panel
(COL6A1, COL6A2, COL6A3, COL12A1)
Page 5/12
The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited.
Requisition V3 Oct2014
1-844-363-4357· [email protected]
GENETIC TESTING REQUISITION
NEUROMUSCULAR & DEVELOPMENTAL DELAY
Patient Name:
Schillingallee 68 · 18057 Rostock Germany
Patient DOB (YYYY/MM/DD):
Muscular Disorders (continued)
D
S
D
S
Congenital myasthenic syndrome panel
Congenital myopathy panel
D
S
Limb-girdle muscular dystrophy panel
D
S
D
S
D
S
D
S
Myofibrillar myopathy panel
Myopathy-rhabdomyolysis syndrome panel
S
Nemaline myopathy panel
D
S
D
S
D
S
Malignant hyperthermia panel
Metabolic myopathies panel
Neuronal migration disorders panel
Ullrich muscular dystrophy panel
Walker-Warburg syndrome panel
(AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A)
(ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, FHL1, KBTBD13, MAMLD1, MTM1, MTMR14, MYF6, MYH7, NEB, RYR1, SEPN1,
TNNT1, TPM2, TPM3)
(ANO5, CAPN3, CAV3, DAG1, DNAJB6, DYSF, FKRP, FKTN, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SGCA, SGCB,
SGCD, SGCG, TCAP, TRIM32, TTN (hot Spot testing))
(CACNA1S, RYR1)
(ABHD5, ACADVL, AGL, CPT2, ENO3, ETFA, ETFB, ETFDH, GAA, GBE1, GYG1, GYS1, LDHA, LPIN1, PFKM, PGAM2, PGK1,
PGM1, PHKA1, PNPLA2, PRKAG2, PYGM, SLC22A5, SLC25A20, TAZ
(BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, MYOT)
(ACADL, ACADM, ACADVL, ACAD9, AGL, AMPD1, C10orf2, CPT1B, CPT2, ETFA, ETFB, GAA, GYS1, HADHA, HADHB, LPIN1,
OPA1, OPA3, PFKM, PGAM2, PGM1, PHKA1, POLG, POLG2, PYGM, RRM2B, SUCLA2, TK2, TYMP)
(NEB, ACTA1, CFL2, MTM1, TNNT1, TPM2, TPM3)
(ACTB, ACTG1, ARFGEF2, ARX, COL18A1, COL4A1, CPT2, DCX, EMX2, EOMES, FGFR3, FH, FKRP, FKTN, FLNA, GPR56, IER3IP1,
ISPD, LAMA2, LAMC3, LARGE, MED12, MEF2C, OCLN, PAFAH1B1, PAX6, PEX7, POMGNT1, POMT1, POMT2, PQBP1, RAB18,
RAB3GAP1, RAB3GAP2, RELN, SNAP29, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3, VDAC1, WDR62)
(COL6A1, COL6A2, COL6A3)
(FKRP, FKTN, ISPD, LARGE, POMT1, POMT2)
Single genes:
H
H
D
D
D
D
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
S
S
S
S
D
S
D
S
D
D
D
S
S
S
Bethlem myopathy (COL6A1)
Bethlem myopathy (COL6A2)
Bethlem myopathy (COL6A3)
Bethlem myopathy (COL12A1)
Brody myopathy (ATP2A1)
Central core disease of muscle (RYR1)
Centronuclear myopathy (DNM2)
Centronuclear myopathy type 1 (MTMR14)
Centronuclear myopathy type 2 (BIN1)
Centronuclear myopathy type 3 (MYF6)
Centronuclear myopathy type 4 (CCDC78)
Compton-North congenital myopathy (CNTN1)
Congenital muscular dystrophy and hypoglycosylation of a-dystroglycan (B3GALNT2)
Creatine phosphokinase, elevated serum (CAV3)
Congenital muscular dystrophy-dystroglycanopathy with brain and eye
anomalies,type A (POMGNT1)
Congenital muscular dystrophy-dystroglycanopathy with brain and eye
anomalies,type A13 (B3GNT1)
Dyssegmental dysplasia, Silverman-Handmaker type (HSPG2)
Emery-Dreifuss muscular dystrophy type 1 (EMD)
Emery-Dreifuss muscular dystrophy type 2 (LMNA)
D
S
D
D
D
D
D
D
S
S
S
S
S
S
D
D
D
E
H
H
H
H
E
S
S
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
S
S
S
S
Limb-girdle muscular dystrophy, autosomal recessive type 2K (POMT1)
Limb-girdle muscular dystrophy, autosomal recessive type 2L (ANO5)
Limb-girdle muscular dystrophy, autosomal recessive type 2M (FKTN)
Limb-girdle muscular dystrophy, autosomal recessive type 2N (POMT1)
Limb-girdle muscular dystrophy, autosomal recessive type 2P (DAG1)
Malignant hyperthermia (RYR1)
Malignant hyperthermia type 5 (CACNA1S)
Minicore myopathy with external ophthalmoplegia (RYR1)
Miyoshi myopathy (DYSF)
Muscle hypertrophy (MSTN)
Muscular dystrophy type 1A (LAMA2)
Muscular dystrophy type 1C (FKRP)
Muscular dystrophy type 1D (LARGE)
Muscular dystrophy, Becker type (DMD)
D
S
Muscular dystrophy, Duchenne type (DMD)
R
S
Muscular dystrophy, oculopharyngeal (PABPN1)
D
D
D
S
S
S
Emery-Dreifuss muscular dystrophy type 4 (SYNE1)
D
S
Emery-Dreifuss muscular dystrophy type 5 (SYNE2)
Emery-Dreifuss muscular dystrophy type 6 (FHL1)
Endplate acetylcholinesterase deficiency (COLQ)
Epidermolysis bullosa simplex with muscular dystrophy (PLEC)
Epidermolysis bullosa simplex, autosomal recessive (DST)
Fibrodysplasia ossificans progressiva (ACVR1)
D
D
D
D
D
D
S
S
S
S
S
S
Facioscapulohumeral muscular dystrophy type 1 (D4Z4)
D
S
Filaminopathy (FLNC)
Fukuyama congenital muscular dystrophy (FKTN)
D
D
S
S
D
S
D
D
D
D
D
D
D
D
S
S
S
S
S
S
Myasthenic syndrome, congenital (CHRNE)
Myasthenic syndrome, congenital (CHAT)
Myasthenic syndrome, congenital (CHRNB1)
Myasthenic syndrome, congenital, associated with acetylcholine receptor
deficiency (RAPSN)
Myasthenia syndrome, congenital with tubular aggregates 1 (GFPT1)
Myasthenic syndrome fast channel congenital (CHRNA1)
Myasthenic syndrome fast channel congenital (CHRND)
Myasthenic syndrome slow-channel congenital (CHRNA1)
Myasthenic syndrome slow-channel congenital (CHRND)
Myasthenia syndrome, familial limb-girdle (AGRN)
Myasthenic syndrome associated with acetylcholine receptor deficiency
(MUSK)
Myasthenic syndrome due to mutation in SCN4A (SCN4A)
Myoglobinuria acute recurrent (LPIN1)
Myopathy, desmin-related, associated with mutation in the CRYAB gene
(CRYAB)
Myopathy, distal type 1 (MYH7)
Myopathy, distal type 2 (MATR3)
Myopathy, distal type 4 (FLNC)
Myopathy, distal with anterior tibial onset (DYSF)
Myopathy, distal with decreased Caveolin 3 (CAV3)
Myopathy due to Integrin 7A deficiency (ITGA7)
Myopathy, early-onset with fatal cardiomyopathy (TTN)
Myopathy limb girdle with bone fragility (MTAP)
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss,
and developmental delay (GFER)
Myopathy, myofibrillar 6 (BAG3)
Myopathy, myofibrillar, Desmin-related (DES)
Myopathy, myofibrillar, ZASP-related (LDB3)
Myopathy with fiber-type disproportion (ACTA1)
Myopathy with fiber-type disproportion (SEPN1)
Myosclerosis, autosomal recessive (COL6A2)
Myosin storage myopathy (MYH7)
Myotilinopathy (MYOT)
H
Hereditary myopathy with early respiratory failure (TTN)
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
Hyperkalemic periodic paralysis (SCN4A)
Hypokalemic periodic paralysis type 1 (CACNA1S)
Inclusion body myopathy (GNE)
Limb-girdle muscular dystrophy, autosomal dominant type 1A (MYOT)
Limb-girdle muscular dystrophy, autosomal dominant type 1B (LMNA)
Limb-girdle muscular dystrophy, autosomal dominant type 1C (CAV3)
Limb-girdle muscular dystrophy, autosomal dominant type 1E (DNAJB6)
Limb-girdle muscular dystrophy, autosomal recessive type 2A (CAPN3)
H
D
S
Limb-girdle muscular dystrophy, autosomal recessive type 2B (DYSF)
D
S
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
Limb-girdle muscular dystrophy, autosomal recessive type 2C (SGCG)
Limb-girdle muscular dystrophy, autosomal recessive type 2D (SGCA)
Limb-girdle muscular dystrophy, autosomal recessive type 2E (SGCB)
Limb-girdle muscular dystrophy, autosomal recessice type 2F (SGCD)
Limb-Girdle Muscular Dystrophy, autosomal recessive type 2G (TCAP)
Limb-girdle muscular dystrophy, autosomal recessive type 2H (TRIM32)
Limb-girdle muscular dystrophy, autosomal recessive type 2I (FKRP)
Limb-Girdle Muscular Dystrophy, autosomal recessive type 2J (TTN)
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
H
E
H
H
Page 6/12
S
The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited.
Requisition V3 Oct2014
1-844-363-4357· [email protected]
GENETIC TESTING REQUISITION
NEUROMUSCULAR & DEVELOPMENTAL DELAY
Patient Name:
Schillingallee 68 · 18057 Rostock Germany
Patient DOB (YYYY/MM/DD):
Muscular Disorders (continued)
E
E
H
H
D
R
R
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
Myotonia congenita (CLCN1)
Myotonic dystrophy type 1 (DMPK)
Myotonic dystrophy type 2 (CNBP)
Myotubular myopathy X-linked (MTM1)
NEB Next Generation Sequencing (NEB)
Nemaline myopathy type 1 (TPM3)
Nemaline myopathy type 3 (ACTA1)
Nemaline myopathy type 4 (TPM2)
Nemaline myopathy type 5 (TNNT1)
Nemaline myopathy type 6 (KBTBD13)
Nemaline myopathy type 7 (CFL2)
Neurogenic scapuloperoneal syndrome, Kaeser type (DES)
Neuromyotonia and axonal neuropathy, autosomal recessive (HINT1)
Neutral lipid storage disease with myopathy (PNPLA2)
Nonaka myopathy (GNE)
Paramyotonia congenita of von Eulenburg (SCN4A)
Pompe disease (GAA)
Pontocerebellar hypoplasia type 6 (RARS2)
Potassium-aggravated myotonia (SCN4A)
Rigid spine muscular dystrophy (SEPN1)
Rippling muscle disease (CAV3)
RYR1 Next Generation Sequencing (RYR1)
H
H
E
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
Scapuloperoneal myopathy, MYH7 related (MYH7)
Schwartz-Jampel syndrome (HSPG2)
Spheroid body myopathy (MYOT)
Spinal muscular atrophy (SMA) (SMN1)
Spinal muscular atrophy (SMA), NAIP related (NAIP)
Spinal muscular atrophy (SMA), type 3 (SMN2)
Spinal muscular atrophy, distal, X-linked (ATP7A)
Spinal muscular atrophy, lower extremity, autosomal dominant type 1 (DYNC1H1)
Spinal muscular atrophy, lower extremity, autosomal dominant type 2 (BICD2)
SYNE1 Next Generation Sequencing (SYNE1)
SYNE2 Next Generation Sequencing (SYNE2)
Thyrotoxic periodic paralysis type 1 (CACNA1S)
Thyrotoxic periodic paralysis type 2 (KCNJ18)
Tibial muscular dystrophy, tardive (LDB3)
Tibial muscular dystrophy, tardive (TTN)
Ullrich congenital muscular dystrophy (COL6A1)
Ullrich congenital muscular dystrophy (COL6A2)
Ullrich congenital muscular dystrophy (COL6A3)
Walker-Warburg syndrome (FKRP)
Walker-Warburg syndrome (FKTN)
Walker-Warburg syndrome (ISPD)
Walker-Warburg syndrome (POMT2)
Mitochondrial Disorders
NGS Panels:
D
S
Leigh syndrome and mitochondrial
encephalopathy panel
D
S
Mitochondrial dysfunctions panel
(ACAD9, ADCK3, AIFM1, APTX, ATPAF2, BCS1L, C10ORF2, NDUFAF6, COQ2, COQ9, COX10, COX15, COX6B1, DARS2, DGUOK,
DLAT, DLD, DNM1L, ETFDH, ETHE1, FASTKD2, FH, FOXRED1, GFER, GFM1, LRPPRC, MPV17, NDUFA1, NDUFA10, NDUFA11, NDUFA2,
NDUFA13, NDUFAF1, NDUFAF2, NDUFAF4, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL,
NDUFA12, NDUFA9, NDUFAF5, SDHA, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, RARS2, SCO1, SCO2, SDHAF1, SUCLA2, SUCLG1,
SURF1, TACO1, TK2, TMEM70, TSFM, TTC19, TUFM, TYMP)
(C10ORF2, DGUOK, MPV17, MT-ND1, MT-ND5, MT-ND6, MT-TH, MT-TF, MT-TL1, MT-TK, MT-TP, MT-TQ, MT-TS1, MT-TS2, PC, POLG, PUS1,
RRM2B , SUCLA2, SUCLG1, TK2,TYMP)
Single genes:
E
D
S
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission
(DNM1L)
D
S
Mitochondrial complex I deficiency (NDUFA11)
D
S
Leigh syndrome (MTND3)
D
S
Mitochondrial complex I deficiency (NDUFAF1)
D
S
Leigh syndrome (BCS1L)
D
S
Mitochondrial complex I deficiency (NDUFAF3)
D
S
Leigh syndrome (NDUFAF6)
D
S
Mitochondrial complex I deficiency (NDUFAF4)
D
S
Leigh syndrome (COX15)
D
S
Mitochondrial complex I deficiency (NDUFAF5)
D
S
Leigh syndrome (FOXRED1)
D
S
Mitochondrial complex I deficiency (NDUFB3)
D
S
Leigh syndrome (NUBPL)
D
S
Mitochondrial complex I deficiency (NDUFS1)
D
S
Leigh syndrome (NDUFA10)
D
S
Mitochondrial complex I deficiency (NDUFS2)
D
S
Leigh syndrome (NDUFA2)
D
S
Mitochondrial complex I deficiency (NDUFS4)
D
S
Leigh syndrome (NDUFAF1)
D
S
Mitochondrial complex I deficiency (NDUFS6)
D
S
Leigh syndrome (NDUFAF2)
D
S
Mitochondrial complex I deficiency (NDUFV1)
D
S
Leigh syndrome (NDUFAF3)
D
S
Mitochondrial complex I deficiency (NDUFV2)
D
S
Leigh syndrome (NDUFA9)
D
S
Mitochondrial complex II deficiency (SDHAF1)
D
S
Leigh syndrome (NDUFA13)
D
S
Mitochondrial complex III deficiency (BCS1L)
D
S
Leigh syndrome (NDUFS3)
D
S
Mitochondrial complex III deficiency (TTC19)
D
S
Leigh syndrome (NDUFS4)
D
S
Mitochondrial complex III deficiency (UQCRB)
D
S
Leigh syndrome (NDUFS7)
D
S
Mitochondrial complex III deficiency (UQCRC2)
D
S
Leigh syndrome (NDUFS8)
D
S
Mitochondrial complex III deficiency (UQCRQ)
D
S
Leigh syndrome and mitochondrial encephalopathy (ACAD9)
D
S
Mitochondrial complex IV deficiency (FASTKD2)
D
S
Leigh syndrome due to COX deficiency (SURF1)
D
S
Mitochondrial complex V (ATP synthase) deficiency (MT-ATP6)
D
S
Leigh syndrome due to pyruvate carboxylase deficiency (PC)
D
S
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 (ATPAF2)
D
S
Leigh syndrome due to the mitochondrial complex IV deficiency (TACO1)
D
S
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (TMEM70)
D
S
Leigh syndrome, French-Canadian type (LRPPRC)
D
S
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 (ATP5E)
D
S
Leigh syndrome, X-linked (PDHA1)
D
S
Mitochondrial DNA depletion syndrome (C10ORF2)
MERRF syndrome (MT-TK)
D
S
Mitochondrial DNA depletion syndrome (DGUOK)
MERRF, 2. level m8356, m8363, m8361 in MTTK, m611, m15967 in MTTP (MT-TP)
D
S
Mitochondrial DNA depletion syndrome (RRM2B)
D
E
D
S
Metachromatic leukodystrophy due to Saposin B deficiency (PSAP)
D
S
Mitochondrial DNA depletion syndrome (SUCLA2)
D
D
S
S
Mitochondrial complex I deficiency (FOXRED1)
Mitochondrial complex I deficiency (NDUFA1)
D
D
S
S
Mitochondrial DNA depletion syndrome (TK2)
Mitochondrial DNA depletion syndrome type 4A (POLG)
H
Page 7/12
The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited.
Requisition V3 Oct2014
1-844-363-4357· [email protected]
GENETIC TESTING REQUISITION
NEUROMUSCULAR & DEVELOPMENTAL DELAY
Patient Name:
Schillingallee 68 · 18057 Rostock Germany
Patient DOB (YYYY/MM/DD):
Mitochondrial Disorders (continued)
S
Mitochondrial DNA depletion syndrome type 6 (MPV17)
D
S
Mitochondrial neurogastrointestinal encephalopathy syndrome without
leukoencephalopathy (TYMP)
D
S
Mitochondrial DNA depletion syndrome, encephalomyopathic type with
methylmalonic aciduria (SUCLG1)
D
S
Mitochondrial respiratory chain disease, TIMM21-related (TIMM21)
D
S
Mitochondrial encephalopathy (VDAC1)
H
S
D
Progressive external ophthalmoplegia with mitochondrial deletions autosomal
recessive (POLG)
D
S
Mitochondrial encephalopathy, progressive with proximal renal tubulopathy
due to cytochrome c oxidase deficiency (COX10)
H
S
D
Progressive external ophthalmoplegia with mitochondrial deletions type 1 (POLG)
D
S
Mitochondrial encephalomyopathy (MT-CYB)
D
S
Progressive external ophthalmoplegia with mitochondrial deletions type 2 (SLC25A4)
D
S
Mitochondrial encephalomyopathy (MT-TL2)
S
D
Progressive external ophthalmoplegia with mitochondrial deletions type 3
(C10ORF2)
D
S
Mitochondrial encephalomyopathy (MFF)
S
D
Progressive external ophthalmoplegia with mitochondrial deletions type 4 (POLG2)
S
D
Progressive external ophthalmoplegia with mitochondrial deletions type 5 (RRM2B)
D
H
D
S
D
S
Progressive mitochondrial myopathy with congenital cataract, hearing loss,
and developmental delay (GFER)
Mitochondrial neurogastrointestinal encephalopathy syndrome without
leukoencephalopathy (POLG)
Epilepsies
NGS Panels:
D
S
D
S
D
S
D
S
D
S
D
S
D
S
Absence epilepsy in childhood panel
Dravet syndrome panel
Early infantile epileptic encephalopathy
panel
Epileptic encephalopathy panel
Generalized epilepsy with febrile
seizures panel
Hereditary partial epilepsy panel
Hyperekplexia panel
(CACNA1H, GABRA1, GABRB3, GABRG2, JRK, SLC2A1)
(SCN1A, GABRG2, SCN2A, SCN9A)
(ARX, CDKL5, SLC25A22, STXBP1, SPTAN1, SCN1A, KCNQ2, KCNT1, ARHGEF9, PCDH19, PNKP, SCN2A, SCN8A, PLCB1)
(ACY1, ADSL, ALDH7A1, AMT, ARHGEF9, ARX, CDKL5, CNTNAP2, CPT2, FOLR1, FOXG1, GABRG2, GAMT, GCSH, GLDC,
GRIN2A, GRIN2B, KCNJ10, KCNQ2, MAGI2, MAPK10, MECP2, MTHFR, NRXN1, PCDH19, PLCB1, PNKP, PNPO, PRRT2, RNASEH2A,
RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC19A3, SLC25A22, SLC2A1, SLC9A6, SPTAN1,
SRGAP2, STXBP1, TBCE, TCF4, TREX1, UBE3A, ZEB2)
(GABRD, GABRG2, SCN1A, SCN1B, SCN2A, SCN9A)
(CACNA1H, CACNB4, CHRNA2, CHRNA4, CHRNB2, CLCN2, CPA6, DEPDC5, EFHC1, GABRA1, GABRB3, GABRD, GABRG2,
JRK, KCNMA1, KCNQ2, KCNQ3, LGI1, MTATP6 , SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SRPX2)
(ARHGEF9, GLRA1, GLRB, GPHN, SLC6A5)
Single genes:
H
D
S
Amish infantile epilepsy syndrome (ST3GAL5)
D
S
Epileptic encephalopathy, Lennox-Gastaut type (MAPK10)
D
S
Autosomal dominant lateral temporal lobe epilepsy (LGI1)
D
S
Epilepsy with neurodevelopmental defects (GRIN2A)
D
S
Benign familial neonatal-infantile seizures (SCN2A)
D
S
Familial focal epilepsy with variable foci (DEPDC5)
D
S
Benign familial neonatal seizures (KCNQ2)
D
S
Familial temporal lobe epilepsy type 5 (CPA6)
D
S
Benign familial neonatal seizures (KCNQ3)
D
S
Familial infantile myoclonic epilepsy (TBC1D24)
D
S
Childhood absence epilepsy type 2 (GABRG2)
D
S
Generalized epilepsy and paroxysmal dyskinesia (KCNMA1)
D
S
Childhood absence epilepsy type 4 (GABRA1)
D
S
Generalized epilepsy with febrile seizures plus type 1 (SCN1B)
D
S
Childhood absence epilepsy type 5 (GABRB3)
D
S
Generalized epilepsy with febrile seizures plus type 2 (SCN1A)
D
S
Childhood absence epilepsy type 6 (CACNA1H)
D
S
Generalized epilepsy with febrile seizures plus type 3 (GABRG2)
D
S
Childhood absence epilepsy, JRK related (JRK)
D
S
Generalized epilepsy with febrile seizures plus type 5 (GABRD)
D
S
Cortical dysplasia-focal epilepsy syndrome (CNTNAP2)
H
D
S
Generalized epilepsy with febrile seizures plus type 7 (SCN9A)
D
S
Dravet syndrome (GABRG2)
H
D
S
Glucose transporter type 1 deficiency syndrome (SLC2A1)
D
S
Dravet syndrome (SCN2A)
D
S
Hyperekplexia (GLRA1)
D
S
Dravet syndrome (SCN9A)
D
S
Hyperekplexia (GLRB)
D
S
Early infantile epileptic encephalopathy type 1 (ARX)
D
S
Hyperekplexia (SLC6A5)
D
S
Early infantile epileptic encephalopathy type 2 (CDKL5)
D
S
Hyperekplexia (GPHN)
D
S
Early infantile epileptic encephalopathy type 3 (SLC25A22)
D
S
Hyperekplexia (ARHGEF9)
D
S
Early infantile epileptic encephalopathy type 4 (STXBP1)
D
S
Idiopathic generalized epilepsy type 10 (GABRD)
D
S
Early infantile epileptic encephalopathy type 5 (SPTAN1)
D
S
Idiopathic generalized epilepsy type 11 (CLCN2)
D
S
Early infantile epileptic encephalopathy type 6 (SCN1A)
D
S
Idiopathic generalized epilepsy type 12 (SLC2A1)
D
S
Early infantile epileptic encephalopathy type 7 (KCNQ2)
D
S
Juvenile absence epilepsy type 1 (EFHC1)
D
S
Early infantile epileptic encephalopathy type 8 (ARHGEF9)
D
S
Kohlschutter Tonz syndrome (ROGDI)
D
S
Early infantile epileptic encephalopathy type 9 (PCDH19)
D
S
Myoclonic epilepsy of Lafora (EPM2A)
D
S
Early infantile epileptic encephalopathy type 10 (PNKP)
D
S
Myoclonic epilepsy of Lafora (NHLRC1)
D
S
Early infantile epileptic encephalopathy type 11 (SCN2A)
D
S
Nocturnal frontal lobe epilepsy type 1 (CHRNA4)
D
S
Early infantile epileptic encephalopathy type 12 (PLCB1)
D
S
Nocturnal frontal lobe epilepsy type 3 (CHRNB2)
D
S
Early infantile epileptic encephalopathy type 13 (SCN8A)
D
S
Nocturnal frontal lobe epilepsy type 4 (CHRNA2)
D
S
Epileptic encephalopathy (MAGI2)
D
S
Nocturnal frontal lobe epilepsy type 5 (KCNT1)
H
H
Page 8/12
The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited.
Requisition V3 Oct2014
1-844-363-4357· [email protected]
GENETIC TESTING REQUISITION
NEUROMUSCULAR & DEVELOPMENTAL DELAY
Patient Name:
Schillingallee 68 · 18057 Rostock Germany
Patient DOB (YYYY/MM/DD):
Epilepsies (continued)
H
D
S
Paroxysmal exercise-induced dyskinesia with epilepsy and/orhemolytic anemia
(SLC2A1)
S
D
Pyruvate carboxylase deficiency (PC)
D
S
Polymicrogyria bilateral occipital (NR2E1)
D
S
Rolandic epilepsy, mental retardation, and speech dyspraxia (SRPX2)
D
S
Progressive myoclonic epilepsy type 1A (PRICKLE1)
D
S
SESAME syndrome (KCNJ10)
D
S
Progressive myoclonic epilepsy type 3 (KCTD7)
D
S
Unverricht-Lundborg disease (CSTB)
D
S
Progressive myoclonic epilepsy type 4, with or without renal failure (SCARB2)
D
S
X-linked epilepsy with learning disabilities and behavior disorders (SYN1)
D
S
Pyridoxine-dependent epilepsy (ALDH7A1)
Leukodystrophies and Other Brain Diseases
NGS Panels:
D
S
D
S
S
D
S
D
S
D
S
D
S
D
S
D
S
D
S
D
S
D
S
S
Aicardi-Goutieres syndrome panel
(TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1)
Central hypoventilation syndrome panel
Ceroid lipofuscinosis panel
Joubert syndrome panel
(RET, GDNF, EDN3, BDNF, ASCL1, PHOX2A, PHOX2B, ZEB2, GFRA1, ECE1, MECP2)
Holoprosencephaly panel
Leukodystrophy and peroxisome
biogenesis disorders panel
Lissencephaly panel
Neuronal migration disorders panel
Pantothenate kinase-associated
neurodegeneration panel
Pontocerebellar hypoplasia panel
Tuberous sclerosis panel
Walker-Warburg syndrome panel
Zellweger syndrome panel
(CLN3,CLN5,CLN6,CLN8,CTSD,DNAJC5,MFSD8,PPT1,TPP1)
(AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, EXOC8, INPP5E, KIF7, MSK1, NPHP1, NPHP3, OFD1,
RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423)
(CDON, FGF8, GLI2, GLI3, PTCH1, SHH, SIX3, TGIF1, ZIC2)
(ABCD1, AIMP1, ARSA, ASPA, BEST1, CSF1R, CYP27A1, DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H, FAM126A,
GALC, GFAP, GJC2, HEPACAM, HSPD1, MLC1, NDUFV1, NOTCH3, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2,
PEX26, PEX3, PEX5, PEX6, PEX7, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1,
SDHA, SLC16A2, SOX10, SUMF1, TREM2, TREX1, HSD17B4, LMNB1, PEX11B, PHYH, SCP2, SDHAF1, TYROBP)
(ARX, DCX, NDE1, PAFAH1B1, RELN, TUBA1A, YWHAE)
(ACTB, ACTG1, ARFGEF2, ARX, COL18A1, COL4A1, CPT2, DCX, EMX2, EOMES, FGFR3, FH, FKRP, FKTN, FLNA, GPR56,
IER3IP1, ISPD, LAMA2, LAMC3, LARGE, MED12, MEF2C, OCLN, PAFAH1B1, PAX6, PEX7, POMGNT1, POMT1, POMT2, PQBP1,
RAB18, RAB3GAP1, RAB3GAP2, RELN, SNAP29, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3, VDAC1, WDR62)
(ATP13A2, C19orf12, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45)
(CASK, TSEN2, TSEN34, TSEN54, OPHN1, RARS2, VRK1, EXOSC3, CHMP1A)
(TSC1, TSC2)
(FKRP, FKTN, ISPD, LARGE, POMT1, POMT2)
(PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26)
Single genes:
H
H
H
H
H
H
H
D
D
S
S
Acrocallosal syndrome (KIF7)
Acyl-CoA peroxisomal oxidase deficiency (ACOX1)
D
D
S
S
D
S
Adrenoleukodystrophy/Adrenomyeloneuropathy (ABCD1)
R
S
D
D
D
D
D
D
D
D
S
Aicardi-Goutieres syndrome type 1 (TREX1)
D
S
S
S
S
S
S
S
S
S
S
Aicardi-Goutieres syndrome type 2 (RNASEH2B)
Aicardi-Goutieres syndrome type 3 (RNASEH2C)
Aicardi-Goutieres syndrome type 4 (RNASEH2A)
Aicardi-Goutieres syndrome type 5 (SAMHD1)
Aicardi-Goutieres syndrome type 7 (IFIH1)
Alexander disease (GFAP)
Allan-Herndon-Dudley syndrome (SLC16A2)
Athabaskan brainstem dysgenesis syndrome (HOXA1)
Band-like calcification with simplified gyration and polymicrogyria (OCLN)
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
D
D
D
S
Baraitser-Winter syndrome 1 (ACTB)
D
S
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
Baraitser-Winter syndrome 2 (ACTG1)
Basal ganglia and cerebellar atrophy with hypomethylation [DYT4] (TUBB4A)
Basal ganglia calcification type 3 (SLC20A2)
Basal ganglia calcification type 4 (PDGFRB)
Budd-Chiari syndrome (F5)
Budd-Chiari syndrome (JAK2)
CADASIL (NOTCH3)
Canavan disease (ASPA)
Central hypoventilation syndrome (ASCL1)
Central hypoventilation syndrome, congenital (RET)
Central hypoventilation syndrome, congenital (GDNF)
Central hypoventilation syndrome, congenital (EDN3)
Central hypoventilation syndrome, congenital (BDNF)
Central hypoventilation syndrome, congenital (ASCL1)
Central hypoventilation syndrome, congenital (PHOX2A)
Central hypoventilation syndrome, congenital (ZEB2)
Central hypoventilation syndrome, congenital (GFRA1)
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
H
H
H
Page 9/12
Central hypoventilation syndrome, congenital (ECE1)
Central hypoventilation syndrome, congenital (MECP2)
Central hypoventilation syndrome with or without Hirschsprung disease
(PHOX2B)
Cerebellar hypoplasia and mental retardation with or without quadrupedal
locomotion type 1 (VLDLR)
Cerebrotendinous xanthomatosis (CYP27A1)
Chudley-McCullough syndrome (GPSM2)
Cortical dysplasia, complex, with other brain malformations (TUBB3)
Cortical malformations, occipital (LAMC3)
COACH syndrome (TMEM67)
COACH syndrome (CC2D2A)
COACH syndrome (RPGRIP1L)
Cohen syndrome (VPS13B)
Corpus callosum, agenesis of, with abnormal genitalia (ARX)
Corpus callosum agenesis of with mental retardation ocular coloboma and
micrognathia (IGBP1)
Cortical dysplasia with other brain malformations, type 5 (TUBB2A)
Donnai-Barrow syndrome (LRP2)
Encephalopathy acute necrotizing type 1 (RANBP2)
Encephalopathy neonatal severe (MECP2)
Encephalopathy thiamine-responsive (SLC19A3)
Encephalopathy with neuroserpin inclusion bodies (SERPINI1)
Ethylmalonic encephalopathy (ETHE1)
Fucosidosis (FUCA1)
Glycine encephalopathy (AMT)
Glycine encephalopathy (GCSH)
Glycosylation disorder type 1C (ALG6)
Glycosylation disorder type 1E (DPM1)
Glycosylation disorder type 1J (DPAGT1)
Glycosylation disorder type 1M (DOLK)
Glycosylation disorde type 2A (MGAT2)
Glycosylation disorde type 2C (SLC35C1)
Glycosylation disorder type 2D (B4GALT1)
The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited.
Requisition V3 Oct2014
1-844-363-4357· [email protected]
GENETIC TESTING REQUISITION
NEUROMUSCULAR & DEVELOPMENTAL DELAY
Patient Name:
Schillingallee 68 · 18057 Rostock Germany
Patient DOB (YYYY/MM/DD):
Leukodystrophies and Other Brain Diseases (continued)
H
H
H
H
H
D
D
S
S
Glycosylation disorder type 2E (COG7)
Glycosylation disorder type 2F (SLC35A1)
D
D
S
S
D
S
Glycosylation disorder type 2G (COG1)
D
S
D
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
S
D
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
S
D
S
D
S
Pelizaeus-Merzbacher disease (PLP1)
D
D
D
D
D
S
S
S
S
S
Glycosylation disorder type 2H (COG8)
GM1-gangliosidosis (GLB1)
Griscelli syndrome type 2 (RAB27A
Hemimegalencephaly (AKT3)
Holoprosencephaly type 2 (SIX3)
Holoprosencephaly type 3 (SHH)
Holoprosencephaly type 4 (TGIF1)
Holoprosencephaly type 5 (ZIC2)
Holoprosencephaly-type 9 (GLI2)
Holoprosencephaly type 11 (CDON)
Hydranencephaly with abnormal genitalia/Lissencephaly X-linked 2 (ARX)
Hydrocephalus with aqueductal stenosis and congenital intestinal
pseudoobstraction (L1CAM)
Hydrolethalus syndrome (HYLS1)
Joubert syndrome type 1 (INPP5E)
Joubert syndrome type 2 (TMEM216)
Joubert syndrome type 3 (AHI1)
Joubert syndrome type 4 (NPHP1)
Megalencephalic leukoencephalopathy with subcortical cysts (MLC1)
Megalencephalic leukoencephalopathy with subcortical cysts 2A (HEPACAM)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
(PIK3R2)
Metachromatic leukodystrophy due to Saposin B deficiency (PSAP)
Miller Dieker lissencephaly syndrome (YWHAE)
Neurodegeneration with brain iron accumulation type 4 (C19orf12)
Neurodegeneration with brain iron accumulation type 6 (WDR45)
Neuronal migration disorder (CTNNA2)
Neuronal migration disorder (EOMES)
Neuronal migration disorder (SRGAP2)
Neuronal migration disorder (SPTBN5)
Niemann Pick disease type C1 (NPC1)
Pantothenate kinase-associated neurodegeneration (PANK2)
Parietal foramina type 2 (ALX4)
D
D
D
D
D
S
S
S
S
S
D
S
Joubert syndrome type 5 (CEP290)
D
S
D
S
Joubert syndrome type 6 (TMEM67)
D
S
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
S
S
S
S
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
D
S
D
S
Walker-Warburg syndrome (FKTN)
D
S
D
S
Walker-Warburg syndrome (ISPD)
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
Joubert syndrome type 7 (RPGRIP1L)
Joubert syndrome type 8 (ARL13B)
Joubert syndrome type 9 (CC2D2A)
Joubert syndrome type 10 (OFD1)
Joubert syndrome type 13 (TCTN1)
Joubert syndrome type 14 (TMEM237)
Joubert syndrome type 15 (CEP41)
Joubert syndrome type 16 (TMEM138)
Joubert syndrome type 17 (C5orf42)
Joubert syndrome type 18 (TCTN3)
Joubert syndrome type 20 (TMEM231)
Joubert syndrome type 21 (CSPP1)
Joubert syndrome, EXOC8 related (EXOC8)
Joubert syndrome, EXOSC8 related (EXOSC8)
Kearns-Sayre syndrome (mtDNA)
Kenny-Caffey syndrome, type 2 (FAM111A)
Krabbe disease (GALC)
Leukodystrophy (LAMB1)
Leukodystrophy demyelinating adult-onset, autosomal dominant (LMNB1)
Leukodystrophy hypomyelinating (GJC2)
Leukodystrophy hypomyelinating type 3 (AIMP1)
Leukodystrophy hypomyelinating type 4 (HSPD1)
Leukodystrophy hypomyelinating type 5 (FAM126A)
Leukodystrophy hypomyelinating type 7 (POLR3A)
Leukodystrophy hypomyelinating type 8 (POLR3B)
Leukodystrophy with dysmyelination and spastic paraparesis with or without
dystonia [SPG35](FA2H)
Leukoencephalopathy with brainstem and spinal cord involvement and lactate
elevation (DARS2)
Leukoencephalopathy with dystonia and motor neuropathy (SCP2)
Leukoencephalopathy with vanishing white matter (EIF2B1)
Leukoencephalopathy with vanishing white matter (EIF2B2)
Leukoencephalopathy with vanishing white matter (EIF2B3)
Leukoencephalopathy with vanishing white matter (EIF2B4)
Leukoencephalopathy with vanishing white matter (EIF2B5)
Leukoencephalopathy, cystic without megalencephaly (RNASET2)
Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)
Leukoencephalopathy, diffuse, CSF1-related (CSF1)
Lissencephaly type 1 (PAFAH1B1)
Lissencephaly type 2 (RELN)
Lissencephaly type 3 (TUBA1A)
Lissencephaly type 4 with microcephaly (NDE1)
Lissencephaly, X-linked type 1 (DCX)
Lissencephaly, X-linked type 2 (ARX)
Lissencephaly/Subcortical laminal heteropia, X-linked (DCX)
Mandibulofacial dysostosis with microcephaly (EFTUD2)
Pelizaeus-Merzbacher disease (SLC16A2)
Pelizeaus-Merzbacher-like disease type 1 (GJC2)
Periventricular heterotopia with microcephaly (ARFGEF2)
Peroxisome biogenesis disorder 14B (PEX11B)
Perrault syndrome (HSD17B4)
Polycystic lipomembranous osteodysplasia with sclerosing
leukoencephalopathy (TYROBP)
Polycystic lipomembranous osteodysplasia with sclerosing
leukoencephalopathy (TREM2)
Polymicrogyria asymmetric (TUBB2B)
Polymicrogyria bilateral frontoparietal (GPR56)
Polymicrogyria bilateral occipital (NR2E1)
Polymicrogyria with optic nerve hypoplasia (TUBA8)
Polymicrogyria with seizures (RTTN)
Pontocerebellar hypoplasia type 1A (VRK1)
Pontocerebellar hypoplasia type 1B (EXOSC3)
Pontocerebellar hypoplasia type 2A (TSEN54)
Pontocerebellar hypoplasia type 4 (TSEN54)
Pontocerebellar hypoplasia type 6 (RARS2)
Pontocerebellar hypoplasia type 8 (CHMP1A)
Porencephaly, familial (COL4A1)
Porencephaly 2 (COL4A2)
Schizencephaly (EMX2)
Septooptic dysplasia (HESX1)
Sialuria, finish type (SLC17A5)
Sjogren-Larsson syndrome (ALDH3A2)
Striatal degeneration (PDE88)
TANC2 - related brain disorders (TANC2)
Tuberous sclerosis (TSC1)
Tuberous sclerosis (TSC2)
Vici syndrome (EPG5)
Waardenburg syndrome, type 2D (SNAI2)
Waardenburg syndrome/Hirschsprung disease (EDNRB)
Walker-Warburg syndrome (FKRP)
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
Walker-Warburg syndrome (POMT2)
Warburg micro syndrome type 1 (RAB3GAP1)
WDR27-related brain disorders (WDR27)
Zellweger syndrome (PEX1)
Zellweger syndrome (PEX2)
Zellweger syndrome (PEX3)
Zellweger syndrome (PEX5)
Zellweger syndrome (PEX6)
Zellweger syndrome (PEX10)
Zellweger syndrome (PEX12)
Zellweger syndrome (PEX13)
Zellweger syndrome (PEX14)
Zellweger syndrome (PEX16)
Zellweger syndrome (PEX19)
Zellweger syndrome (PEX26)
ZIC1 - related brain disorders (ZIC1)
ZIC5 - related brain disorders (ZIC5)
S
S
S
S
S
S
S
S
S
S
H
H
Page 10/12
The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited.
Requisition V3 Oct2014
1-844-363-4357· [email protected]
GENETIC TESTING REQUISITION
NEUROMUSCULAR & DEVELOPMENTAL DELAY
Patient Name:
Schillingallee 68 · 18057 Rostock Germany
Patient DOB (YYYY/MM/DD):
Other
NGS Panels:
S
Advanced Ashkenazi (Sanger) panel
(GBA (8 mutations), CFTR (26 mut), HEXA (7mut), IKBKAP (2 mut), ASPA (4 mut), G6PC (2 mut) ABCC8 (2 mut), MCOLN1 (2
mut), BCKDHB (3mut), FANCC (2 mut), DLD (2 mut), SMPD1 (4 mut), CLRN1 (1 mut), PCDH15 (1mut), BLM (1mut), NEB (1 mut))
S
Basic Ashkenazi (Sanger) panel
(HEXA (7 mutations), IKBKAP (2 mut), ASPA (4 mut),MCOLN1 (2 mut), FANCC (2 mut), SMPD1 (4 mut), BLM (1 mut))
D
S
Coffin-Siris syndrome panel
Mental retardation, X-linked panel
D
S
D
S
Microcephaly panel
(ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1)
(ABCD1,ACSL4,AFF2,AGTR2,AP1S2,ARHGEF6,ARHGEF9,ARX,ATP6AP2,ATP7A,ATRX,
BCOR,BRWD3,CASK,CDKL5,CUL4B,DCX,DKC1,DLG3,ELK1,FANCB,FGD1,FLNA,
FMR1,FTSJ1,GDI1,GK,GPC3,GRIA3,HCCS,HPRT1,HSD17B10,HUWE1,IDS,IGBP1,
IL1RAPL1,KIAA2022,KDM5C,KLF8,L1CAM,LAMP2,MAGT1,MAOA,MBTPS2,MECP2,
MED12,MID1,MTM1,NDP,NDUFA1,NHS,NLGN3,NLGN4X,NSDHL,NXF5,OCRL,
OFD1,OPHN1,OTC,PAK3,PCDH19,PDHA1,PGK1,PHF6,PHF8,PLP1,PORCN,PQBP1,
PRPS1,RAB39B,RPL10,RPS6KA3,SHROOM4,SLC16A2,SLC6A8,SLC9A6,SMC1A,
SMS,SOX3,SRPX2,SYN1,SYP,TIMM8A,TSPAN7,UBE2A,UPF3B,ZCCHC12,ZDHHC9, ZDHHC15,ZNF41,ZNF81,ZNF674,ZNF711)
(AKT3, AP4M1, ASPM, CASK, CDK5RAP2, CENPJ, CEP135, CEP152, CEP63, DNM1L, EFTUD2, IER3IP1, KIF11, MCPH1, MRE11A,
MSMO1, NDE1, NHEJ1, NR2E1, PAFAH1B1, PCNT, PNKP, POMT1, SLC25A19, STIL, TUBB2B, TUBGCP6, WDR62)
Single genes:
H
H
H
H
H
H
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
Achalasia addisonianism alacrimia syndrome (AAAS)
Alacrima, achalasia and mental retardation syndrome (GMPPA)
Allan-Herndon-Dudley syndrome (SLC16A2)
Alazami syndrome (LARP7)
Angelman-like syndrome (MECP2)
Angelman-like syndrome (CDKL5)
Arts syndrome (PRPS1)
Asperger syndrome susceptibility X-linked type 2 (NLGN3)
Attention deficit-hyperactivity disorder (DRD4)
Attention deficit-hyperactivity disorder (DRD5)
Autism spectrum disorder (EN2)
Autism, MBD1-related (MBD1)
Autism, OR13H1-related (OR13H1)
Autism susceptibility, X-linked type 1 (NLGN3)
Autism susceptibility, X-linked type 2 (NLGN4X)
Autism susceptibility, X-linked type 3 (MECP2)
Autism susceptibility, X-linked type 5 (RPL10)
Autism susceptibility, x-linked type 17 (SHANK2)
Bainbridge-Ropers syndrome (ASXL3)
D
D
D
D
D
S
S
S
S
S
D
D
D
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
S
S
S
S
D
S
D
S
Borjeson-Forssman-Lehmann syndrome (PHF6)
D
S
Brunner syndrome (MAOA)
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome
(SNAP29)
Cerebrooculofacioskeletal syndrome type 1 (ERCC6)
Cerebrooculofacioskeletal syndrome type 4 (ERCC1)
CHARGE syndrome (CHD7)
CHIME syndrome (PIGL)
CHILD syndrome (NSDHL)
CK syndrome (NSDHL)
Coffin-Lowry syndrome (RPS6KA3)
Coffin-Siris syndrome (SMARCE1)
Cold-induced sweating syndrome type 2 (CLCF1)
Cold-induced sweating syndrome (CRLF1)
Costello syndrome (HRAS)
Craniofrontonasal syndrome (EFNB1)
Creatine deficiency syndrome X-linked (SLC6A8)
Danon disease (LAMP2)
Dent disease type 2 (OCRL)
DiGeorge syndrome (TBX1)
Dyslexia (PCDH11X)
Dysmorphism, HMG20B-related (HMG20B)
FG syndrome type 1 (MED12)
FG syndrome type 2 (FLNA)
FG syndrome type 4 (CASK)
Fragile X tremor/ataxia syndrome (FMR1)
Frontometaphyseal dysplasia (FLNA)
Heterotopia, periventricular, ED variant (FLNA)
Heterotopia, periventricular, X-linked dominant (FLNA)
Hoyeraal-Hreidarsson syndrome (DKC1)
Hyperphosphatasia with mental retardation syndrome 2 (PIGO)
Insensitivity to pain, channelopathy-associated (SCN9A)
Intellectual disability nonsyndromic (CUX2)
D
D
S
S
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
D
D
D
D
R
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
S
S
H
H
H
Page 11/12
Intellectual disability nonsyndromic, CIC-related (CIC)
Jawad syndrome (RBBP8)
Jensen syndrome (TIMM8A)
Kabuki syndrome type 1 (KMT2D)
Kabuki syndrome type 2 (KDM6A)
Kleefstra syndrome (EHMT1)
Koolen syndrome (KANSL1)
Lesch-Nyhan syndrome (HPRT1)
Lowe oculocerebrorenal syndrome (OCRL)
Lujan-Fryns syndrome (MED12)
Major affective disorder (CUTL2)
MASA syndrome (L1CAM)
Martsolf syndrome (RAB3GAP2)
Melnick-Needles syndrome (FLNA)
Mental retardation (ATP8A2)
Mental retardation non-syndromic (ELK1)
Mental retardation non-syndromic (KLF8)
Mental retardation non-syndromic (NXF5)
Mental retardation non-syndromic (ZCCHC12)
Mental retardation with Cerebellar ataxia and dysequilibrium syndrome type 2
(WDR81)
Mental retardation with hypotonic facies syndrome, X-linked (ATRX)
Mental retardation and microcephaly with pontine and cerebellar hypoplasia
(CASK)
Mental retardation, autosomal recessive type 3 (CC2D1A)
Mental retardation, autosomal recessive type 5 (NSUN2)
Mental retardation, autosomal recessive type 15 (MAN1B1)
Mental retardation, autosomal recessive type 39 (TTI2)
Mental retardation, autosomal dominant type 2 (DOCK8)
Mental retardation, autosomal dominant type 5 (SYNGAP1)
Mental retardation, autosomal dominant type 6 (GRIN2B)
Mental retardation, autosomal dominant type 9 (KIF1A)
Mental retardation, autosomal dominant type 12 (ARID1B)
Mental retardation, autosomal dominant type 13 (TRAPPC9)
Mental retardation, autosomal dominant type 14 (ARID1A)
Mental retardation, autosomal dominant type 15 (SMARCB1)
Mental retardation, autosomal dominant type 16 (SMARCA4)
Mental retardation, autosomal dominant type 18 (MED23)
Mental retardation, autosomal dominant type 20 (MEF2C)
Mental retardation, X-linked (RAB40AL)
Mental retardation, X-linked type 3 (HCFC1)
Mental retardation, X-Linked type 13 (MECP2)
Mental retardation, X-linked type 14 (UPF3B)
Mental retardation, X-linked type 15 (CUL4B)
Mental retardation, X-linked type 16 (FGD1)
Mental retardation, X-linked type 17 (HSD17B10)
Mental retardation, X-linked type 19 (RPS6KA3)
Mental retardation, X-linked type 21 (IL1RAPL1)
Mental retardation, X-linked type 29 (ARX)
Mental retardation, X-linked type 30 (PAK3)
Mental retardation, X-linked type 32 (CLIC2)
Mental retardation, X-linked type 41 (GDI1)
Mental retardation, X-linked type 44 (FTSJ1)
The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited.
Requisition V3 Oct2014
1-844-363-4357· [email protected]
GENETIC TESTING REQUISITION
NEUROMUSCULAR & DEVELOPMENTAL DELAY
Patient Name:
Schillingallee 68 · 18057 Rostock Germany
Patient DOB (YYYY/MM/DD):
Other (continued)
H
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
D
S
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
D
S
D
D
D
D
D
D
D
S
S
S
S
S
S
S
D
S
D
S
D
D
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
S
S
Mental retardation, X-linked type 46 (ARHGEF6)
Mental retardation, X-linked type 58 (TSPAN7)
Mental retardation, X-linked type 59 (AP1S2)
Mental retardation, X-linked type 63 (ACSL4)
Mental retardation, X-linked type 72 (RAB39B)
Mental retardation, X-linked type 88 (AGTR2)
Mental retardation, X-linked type 89 (ZNF41)
Mental retardation, X-linked type 90 (DLG3)
Mental retardation, X-linked type 91 (ZDHHC15)
Mental retardation, X-linked type 92 (ZNF674)
Mental retardation, X-linked type 93 (BRWD3)
Mental retardation, X-linked type 94 (GRIA3)
Mental retardation, X-linked type 95 (MAGT1)
Mental retardation, X-linked type 96 (SYP)
Mental retardation, X-linked type 97 (ZNF711)
Mental retardation, X-linked, nonsyndromic (KIAA2022)
Mental retardation, X-linked with epilepsy (ATP6AP2)
Mental retardation, X-linked, associated with fragile site FRAXE (AFF2)
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial
appearance (OPHN1)
Mental retardation, X-linked, with isolated growth hormone deficiency (SOX3)
Mental retardation, X-linked, Christianson type (SLC9A6)
Mental retardation X-linked, Claes-Jensen type (KDM5C)
Mental retardation X-linked, Lubs type (MECP2)
Mental retardation, X-linked, Nascimento-type (UBE2A)
Mental retardation, X-linked, Raymond type (ZDHHC9)
Mental retardation, X-linked, Siderius type (PHF8)
Mental retardation X-linked, Turner type (HUWE1)
Mental retardation with language impairment and autistic features (FOXP1)
Microcephaly Amish type (SLC25A19)
Microcephaly and chorioretinopathy with or without mental retardation
(TUBGCP6)
Microcephaly AP4M1 related (AP4M1)
Microcephaly CEP63 related (CEP63)
Microcephaly MRE11A related (MRE11A)
Microcephaly MSMO1 related (MSMO1)
Microcephaly TUBB2B related (TUBB2B)
Microcephaly with cortical malformations, autosomal recessive type 2 (WDR62)
Microcephaly with epilepsy and diabetes syndrome (IER3IP1)
Microcephaly with or without chorioretinopathy, Lymphedema, or Mental
retardation, MCLMR (KIF11)
Microcephaly with symplified gyral pattern and insulin-dependant diabetes
(GFM2)
Microcephaly, autosomal recessive type 1 (MCPH1)
Microcephaly, autosomal recessive type 2 (WDR62)
Microcephaly, autosomal recessive type 3 (CDK5RAP2)
Microcephaly, autosomal recessive type 4 (CASC5)
Microcephaly, autosomal recessive type 5 (ASPM)
Microcephaly, autosomal recessive type 6 (CENPJ)
Microcephaly, autosomal recessive type 7 (STIL)
Microcephaly, autosomal recessive type 8 (CEP135)
Microcephaly, autosomal recessive type 9 (CEP152)
Microcephaly-capillary malformation syndrome (STAMBP)
Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN)
Narcolepsy (HCRT)
H
H
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
Neurodevelopmental disorder, ADAM22-related (ADAM22)
Neurodevelopmental disorder, APC2-related (APC2)
Neurodevelopmental disorder, CNTNAP4-related (CNTNAP4)
Neurodevelopmental disorder, MACF1-related (MACF1)
Neurodevelopmental disorder, NGEF-related (NGEF)
Neurodevelopmental disorder, TUBB-related (TUBB)
Neurodevelopmental disorder, ZNF311-related (ZNF311)
Neurodevelopmental malformation and microcephaly (DYNC1H1)
Neurodevelopmental malformation and microcephaly (TUBG1)
Neurodevelopmental malformation and microcephaly (KIF2A)
Neurodevelopmental malformation and microcephaly (KIF5C)
Nicolaides Baraitser syndrome (SMARCA2)
Norrie disease (NDP)
Occipital horn syndrome (ATP7A)
Opitz G syndrome (MID1)
Opitz-Kaveggia syndrome (MED12)
Oral-facial-digital syndrome type 1 (OFD1)
Oral-facial-digital syndrome type 4 (TCTN3)
D
S
Oral-facial-digital syndrome type 5 (DDX59)
D
D
D
D
D
D
D
D
D
D
S
S
S
S
S
S
S
S
S
Partington syndrome (ARX)
Phosphoglycerate kinase 1 deficiency (PGK1)
Pitt-Hopkins syndrome (TCF4)
Pitt-Hopkins syndrome (NRXN1)
Prader-Willi syndrome (NDN)
Prader-Willi syndrome (SNRPN)
Prader-Willi syndrome (chr. 15q11)
Proud syndrome (ARX)
Psychomotor retardation (TANC1)
Renpenning syndrome (PQBP1)
D
S
Rett syndrome (MECP2)
D
D
D
D
D
D
D
S
S
S
S
S
S
S
Rett syndrome, congenital variant (FOXG1)
Rett syndrome preserved speech variant (MECP2)
RNA processing related disorders (HNRNPU)
Rubinstein-Taybi syndrome (CREBBP)
Rubinstein-Taybi syndrome (EP300)
Schizophrenia, CELSR2-related (CELSR2)
Schizophrenia, NOTCH4-related (NOTCH4)
D
Silver-Russell syndrome (chr. 11p15)
D
S
Silver-Russell syndrome (IGF2)
D
D
D
D
D
D
D
S
S
S
S
S
S
S
D
S
S
S
S
D
D
D
Shprintzen-Goldberg syndrome (SKI)
Simpson-Golabi-Behmel syndrome type 1 (GPC3)
Smith-Lemli-Opitz syndrome (DHCR7)
Smith-Magenis syndrome (RAI1)
Speech-language disorder type 1 (FOXP2)
Spina bifida folate sensitive (MTRR)
Stocco dos Santos X-linked mental retardation syndrome (SHROOM4)
Sturge-Weber syndrome (GNAQ)
Temtamy syndrome (C12orf57)
Tourette syndrome (SLITRK1)
Williams-Beuren syndrome (FZD9)
Page 12/12
The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited.
Requisition V3 Oct2014