Urine Sample Report

CRM-No. :
Patient Name :
Patient ID :
Metabolic Screening Profile
Name:
Package:
CRM No. Lab ID
Age
Gender
Date of Birth
Date of Report
Referred By
Hospital Name
Sample Type
Collection Date
Recieved Date
Urine Sample
Initial Report
Description
Urine Soaked On Filter Paper
Y
Duplicate Report
Revision Report
Version No.
1
Result
* Based on Standardized Metabolic Profile of healthy controls, sample was screened negative for all the IEM Disorders
Investigated. (Enlisted in Annexure)
* Please correlate Clinically. For detail report & any assistance BabyShield Genetic Counselors can be reached at
www.babyshield.com
Reviewed By
Dr. Mahesh Hampe
MBBS , MD (Biochemistry)
Approved By
Dr. Pramod Ingale
MBBS , MD (Biochemistry)
Disclaimers/Conditions of Reporting
•The analysis of urine sample is done by GC/MS Method. The Blood Tests are
performed using Enzyme Immuno-Assay and/or Biochemical Assay Technique
and/or HPLC technique on Blood Dry Spot collected on Special filter Paper.The
testing is done at Preventine Life Care - Navi Mumbai -400705.
•BabyShield - Newborn Metabolic and Genetic Screening tests a sample for
limited metabolites/markers and their effects on human health. It is presumed that
the specimen belongs to the baby / patient named or identified in the Test Request
Form.
•The metabolites and health conditions mapping is not mutually unique and there
can be other forms in which an abnormality may be apparent. Similarly, the
health condition may not exclusively be an outcome of the disorders in
consideration.
•A test requested might not be performed for the following reasons: a. Specimen
quantity insufficient (inadequate collection/ pilferege in transit) b. Specimen
quality (contaminated, fungal growth) c. Incorrect specimen type.
•Isolated laboratory investigations never confirm the final diagnosis of a disease.
They only help in arriving at a diagnosis in conjunction with clinical presentation
and other related investigations.
•All investigations have their limitations which are imposed by the limits of
sensitivity and specificity of individual assay procedures as well as the quality of
specimen received by the laboratory.
•It is important to monitor baby's health and take a proactive approach should
there be any unhealthy condition(s) within or beyond scope of this test.
•BabyShield test is not intended to replace the medical advice and/or treatment
obtained from a qualified healthcare practitioner.
Page 1 of 10
Total Ion Chromatogram of Urinary Metabolites by Gas Chromatography/Mass Spectrometry(GC/MS)
CRM-No. :
Patient Name :
Patient ID :
Page 2 of 10
CRM-No. :
Patient Name :
Patient ID :
Annexure
Detailed report of the tested disorders under Amino Acidopathies, Organic Acidemias, TCA Cycle / Mitochondrial
Abnormality, Fatty Acid Metabolism, Peroxisomal, Purine & Pyrimidine metabolism, Sugar metabolism and Non-IEM
disorders are illustrated in the table below.The graph of metabolic biomarkers used is shown below. Metabolic
Biomarkers associated with the disorder are given with their control and oberved values.
1. Amino Acidopathies and Organic Acidemias:
Sr. No
Name of the Disorder
Result
Sr. No
Name of the Disorder
Result
Glutaric aciduria type II
Absent
1
2-ketoadipic aciduria
Absent
29
2
2-Methyl 3-hydroxy butyric aciduria
Absent
30
Glutathionuria
Absent
3
2-Methylbutyryl-CoA dehydrogenase
deficiency
Absent
31
GTP cyclohydrolase deficiency
Absent
32
Hartnup Disease
Absent
4
3-hydroxy-3-methylglutaryl-CoAlyase deficiency
Absent
33
Histidinemia
Absent
5
3-hydroxyisobutyryl CoA deacylase
deficiency
Absent
34
Histidinuria
Absent
35
Homocystinuria
Absent
6
3-methylcrotonyl CoA carboxylase
deficiency
Absent
36
Hydroxylysinuria
Absent
7
3-methylglutaconic aciduria
Absent
37
Hyperglycinuria(ketotic)
Absent
8
4-hydroxybutyric aciduria
Absent
38
Hyperhydroxyprolinemia
Absent
9
5-oxoprolinuria
Absent
39
Hyperleucine-isoleucinemia
Absent
10
Alkaptonuria
Absent
40
Hypermethioninemia
Absent
11
Argininemia
Absent
41
Hyperornithinemiahyperammoninemiahyperhomocitrullinemia (HHH)
syndrome
Absent
42
Hyperpipecolatemia
Absent
43
Hyperprolinemia type I
Absent
44
Hyperprolinemia type II
Absent
45
Hypersarcosinemia
Absent
46
Imidazole amino aciduria
Absent
12
Argininosuccinic aciduria
Absent
13
Benign hyperphenylalaninemia
Absent
14
Beta- ketothiolase deficiency (BKT)
Absent
15
beta-aminoisobutyric aciduria
Absent
16
Biotinidase deficiency
Absent
17
Canavan disease
Absent
18
carbamoyl phosphate synthetase 1deficiency
Absent
47
Iminoglycinuria
Absent
19
Citrullinemia
Absent
48
Isobutyryl-CoA dehydrogenase
deficiency (IBD)
Absent
20
Citrullinemia type II
Absent
49
Isovaleric acidemia
Absent
21
Cystathioninuria
Absent
50
Lysinuric protein intolerance
Absent
22
Defects of biopterin cofactor
biosynthesis (BIOPT BS)
Absent
51
Malonic acidemia (MAL)
Absent
23
Defects of biopterin cofactor
regeneration (BIOPT REG)
Absent
52
Maple syrup urine disease (MSUD)
Absent
53
Absent
Methylmalonic acidemia (MMA) Cbl C, D
Absent
24
Dihydrolipoyl dehydrogenase (E3)
deficiency
25
dihydropteridine reductase deficiency
Absent
54
Methylmalonic aciduria, cblA and
cblB forms (MMA, Cbl A,B)
Absent
26
Familial Renal iminoglycinuria
Absent
55
Methylmalonic semialdehyde
dehydrogenase deficiency
Absent
27
Formiminoglutamic aciduria
Absent
28
Glutaric aciduria type I
Absent
56
Methylmalonyl- CoA mutase
deficiency (MUT)
Absent
57
Mevalonic aciduria
Absent
Page 3 of 10
CRM-No. :
Patient Name :
58
Multiple carboxylase deficiency
Absent
59
Ornithine transcarbamylase deficiency
Absent
60
Phenylketonuria (PKU)
Absent
61
Propionic acidemia
Absent
62
Saccharopinuria
Absent
63
Serum carnosinase deficiency
Absent
64
Transient neonatal tyrosinemia
Absent
65
Tryptophanuria with dwarfism
Absent
Patient ID :
66
Tyrosinemia caused by liver
dysfunction
Absent
67
Tyrosinemia Type I
Absent
68
Tyrosinemia Type II
Absent
69
Tyrosinemia Type III
Absent
70
Valinemia
Absent
71
Xanthurenic aciduria
Absent
High Risk
Medium Risk
Low Risk
Normal
Sr.
No.
Metabolite Name
Control Value
Observed
Value
Control Value
Observed
Value
1
2AminoAdipate
0-0.6
2Methyl3Hydroxybutyrate
0-0.6
N.D
2
2Ethyl3HydroxyPropionate
13
3AminoIsobutyrate1
0-22.9
N.D
3
N.D
14
3AminoIsobutyrate2
0-0.5
N.D
0-0.1
N.D
15
3Hydroxybutyrate
0-3
N.D
0.2-5.1
0.416
16
3HydroxyGlutarate
0-0.1
N.D
2HydroxyIsoCapric acid
0-0.1
0.003
17
3 HydroxyIsobutyrate
0-0.9
0.039
7
2HydroxyIsoValeric Acid
0-0.8
0.047
18
3HydroxyIsoValeric Acid
0-3.9
N.D
8
2Keto3MethylValerate
0-0.1
N.D
19
3HydroxyPropionic Acid
0-0.6
0.041
9
2Ketoadipate
0-0.1
N.D
20
3Hydroxysebacate
0-0.7
N.D
10
2KetoGlutarate
0-1.5
N.D
21
3MethylCrotonylGlycine1
0-0.1
N.D
11
2KetoGlutamine
0-3.3
N.D
Sr.
No.
Metabolite Name
N.D
12
0-0.5
0.009
2Hydroxyadipate
0-0.6
4
2Hydroxybutyrate
5
2HydroxyGlutarate
6
Page 4 of 10
CRM-No. :
Patient Name :
Patient ID :
22
3MethylCrotonylGlycine2
0-0.1
N.D
53
Histidine
0-11.1
N.D
23
3Methyl-glutaconate1
0-0.8
N.D
54
3-Hydroxy3MethylGlutarate1
0-0.6
0.072
24
3Methyl-glutaconate2
0-0.5
N.D
25
3Methyl-glutarate
0-0.1
N.D
55
3-Hydroxy3MethylGlutarate 2
0.1-1.5
0.046
26
4Hydroxybutyrate
0-0.1
N.D
56
Homocysteine
0-0.1
N.D
27
4-Hydroxyphenylacetic acid
0.1-4.9
0.534
57
Homogentisate
0-0.1
N.D
28
4HydroxyPhenylLactate
0-6.7
0.187
58
HomoSerine
0-10.4
N.D
29
4HydroxyPhenylPyruvate
0-1
N.D
59
isoLeucine
0-4.3
0.115
30
4HydroxyProline
0-27.3
N.D
60
IsoValerylGlycine1
0-0.1
N.D
31
Acetoacetate1
0-0.1
N.D
61
IsoValerylGlycine2
0-0.1
N.D
32
Acetoacetate2
0-0.1
N.D
62
Lactate
1.1-208.1
0.965
33
Adipate
0.1-4
0.086
63
Leucine
0-10.1
N.D
34
Alanine
0.4-68.9
2.455
64
Lysine1
0-4.8
N.D
35
Asparagine
0-0.6
N.D
65
Lysine2
0-0.9
N.D
36
b-Alanine
0-0.5
N.D
66
Mandelate
0-0.1
N.D
37
ButyrylGlycine1
0-0.1
N.D
67
Methyl-citrate
0-1.7
0.007
38
ButyrylGlycine2
0-0.1
N.D
68
Methionine
0-0.7
N.D
39
Cysteine
0-4.3
N.D
69
Mevalonolatone1
0-0.1
N.D
40
Dimethylglycine
0.1-2.1
0.109
70
Mevalonolatone2
0-0.1
N.D
41
Galactitol
0-20.7
0.088
71
MethylMalonic Acid
0-0.5
N.D
42
Galactonate
0-12.9
N.D
72
N-AcetyTyrosine
0-0.1
N.D
43
Galactose1
0-0.7
N.D
73
NacetylAspartate
0-5.4
N.D
44
Galactose2
0-1.7
N.D
74
Ornithine
0-0.7
N.D
45
Glutamine
0-0.4
N.D
75
Orotate
0-0.1
N.D
46
Glu
0-2.4
N.D
76
PhenylAcetic Acid
0-0.7
0.026
47
Glucose1
0-69.9
0.081
77
PropionylGlycine1
0-0.9
N.D
48
Glucose2
0.4-43.2
0.006
78
PropionylGlycine2
0-0.1
N.D
49
glutaconate
0-0.1
N.D
79
Phenylalanine1
0-4.9
N.D
50
Glutarate
0-0.5
0.017
80
Phenylalanine2
0-0.7
N.D
51
Glycine 1
0.1-91.2
7.333
81
PhenylLacticAcid
0-0.1
N.D
52
Glycine2
0-19.4
N.D
82
Phenylpyruvic acid
0-0.1
N.D
83
Proline
0-20.4
N.D
Page 5 of 10
CRM-No. :
Patient Name :
Patient ID :
2. TCA Cycle/Mitochondrial Abnormality:
Sr. No
Name of the Disorder
Result
1
Fumarate hydratase deficiency
Absent
2
Leigh syndrome
Absent
3
Pyruvate carboxylase deficiency
Absent
4
Pyruvate decarboxylase deficiency
Absent
5
Pyruvate dehydrogenase (E1)
deficiency
Absent
6
Pyruvate dehydrogenase phosphatase
deficiency
Absent
High Risk
Medium Risk
Low Risk
Normal
Sr.
No.
Metabolite Name
Control Value
Observed
Value
1
2KetoGlutarate
0-1.5
2
Citrate
3
Fumarate
Control Value
Observed
Value
Lactate
1.1-208.1
0.965
5
Malate
0-5.3
0.058
6
Succinate
0-3.3
0.569
Sr.
No.
Metabolite Name
N.D
4
0-7.2
N.D
0-5.6
0.053
3. Disorders of Fatty Acid Metabolism:
Sr. No
Name of the Disorder
Result
Sr. No
Name of the Disorder
Result
1
Carnitine transport defect
Absent
9
Short chain acyl CoA dehydrogenase
deficiency
Absent
2
Long chain acyl-CoA dehydrogenase
deficiency
Absent
10
Very Long-chain acyl-CoA
dehydrogenase deficiency
Absent
3
Long-chain 3- hydroxyacyl-CoA
dehydrogenase deficiency (LCHAD)
Absent
4
Medium chain acyl CoA
dehydrogenase deficiency
Absent
5
Medium-chain ketoacyl- CoA thiolase
deficiency (MCKAT)
Absent
6
Medium/Short-chain 3-hydroxyacylCoA dehydrogenase deficiency
(SCHAD)
Absent
7
Mitochondrial trifunctional protein
Deficiency
Absent
8
Multiple acyl-CoA dehydrogenation
deficiency
Absent
High Risk
Medium Risk
Low Risk
Normal
Page 6 of 10
CRM-No. :
Patient Name :
Control Value
Observed
Value
2HydroxyGlutarate
0.2-5.1
2
3Hydroxybutyrate
3
Patient ID :
Control Value
Observed
Value
9-Tetradecenoic acid
0-0.1
N.D
12
Hexanoic Acid
0-1.1
N.D
0.11
13
Octanoic acid
0-1.7
N.D
0-0.1
N.D
14
Citrate
0-7.2
N.D
Acetoacetate2
0-0.1
N.D
15
EthylMalonicAcid
0-0.8
N.D
6
Adipate
0.1-4
0.086
16
HexonylGlycine
0-0.4
N.D
7
ButyrylGlycine1
0-0.1
N.D
17
Lactate
1.1-208.1
0.965
8
ButyrylGlycine2
0-0.1
N.D
18
Methyl-succinate
0-0.6
0.006
9
Decanoic acid
0-1.3
N.D
19
sebacate
0-0.1
N.D
10
Dodecanedioic acid
0-0.1
N.D
Sr.
No.
Metabolite Name
Sr.
No.
Metabolite Name
1
0.416
11
0-3
N.D
5HydroxyHexanoic Acid
0-0.6
4
Acetoacetate1
5
4. Peroxisomal Disorders:
Sr. No
Name of the Disorder
Result
1
Infantile refsum disease
Absent
2
Neonatal Adrenoleukodystrophy
Absent
3
Primary hyperoxaluria
Absent
4
Zellweger like syndrome
Absent
5
Zellweger syndrome
Absent
Control Value
Observed
Value
Adipate
0.1-4
2
Malate
3
Oxalate
Sr.
No.
Metabolite Name
1
High Risk
Medium Risk
Low Risk
Normal
Control Value
Observed
Value
sebacate
0-0.1
N.D
Suberate
0-0.6
0.025
Sr.
No.
Metabolite Name
0.086
4
0-5.3
0.058
5
0-0.5
N.D
Page 7 of 10
CRM-No. :
Patient Name :
Patient ID :
5. Disorders of Purine and Pyrimidine Metabolism:
Sr. No
Name of the Disorder
Result
1
Adenine phosphoribosyl transferase
deficiency
Absent
2
Adenosine deaminase deficiency
Absent
3
Dihydropyrimidinase Deficiency
Absent
4
Hyperuric acidemia
Absent
5
Lesch-Nyhan syndrome
Absent
6
Orotic aciduria
Absent
7
Partial deficiency of hypoxanthineadenine phosphoribosyl transferase
deficiency
Absent
8
Thymine Uraciluria
Absent
9
Xanthinuria
Absent
High Risk
Control Value
Observed
Value
5-Hydroxymethyluracil
0-0.1
2
DiHydroThymine
3
4
Sr.
No.
Metabolite Name
1
Medium Risk
Low Risk
Normal
Control Value
Observed
Value
Orotate
0-0.1
N.D
6
Thymine
0-0.5
N.D
7
Uracil
0-3.7
N.D
Sr.
No.
Metabolite Name
N.D
5
0-0.7
N.D
DiHydroUracil
0-0.6
N.D
hypoxanthine
0-0.7
N.D
6. Disorders of Sugars:
Sr. No
Name of the Disorder
Result
1
D-glyceric aciduria
Absent
2
Endogenous sucrosuria
Absent
3
Fructose-1 and 6-diphosphatase
deficiency
Absent
4
Fructosuria
Absent
5
Galactokinase deficiency (GALK)
Absent
6
Galactose epimerase deficiency
(GALE)
Absent
7
Galactosemia
Absent
8
Lactose Intolerance
Absent
9
Transient Galactosemia
Absent
High Risk
Medium Risk
Low Risk
Normal
Page 8 of 10
CRM-No. :
Patient Name :
Control Value
Observed
Value
Fructose
0-0.7
2
Glyceraldehyde 3-phosphate
3
Patient ID :
Control Value
Observed
Value
Glycerol
0-308
N.D
10
Lactate
1.1-208.1
0.965
0.088
11
Lactose
0.2-83.7
0.01
0-12.9
N.D
12
Sucrose
0-33.5
0.657
Galactose1
0-0.7
N.D
6
Galactose2
0-1.7
N.D
7
Glucose1
0-69.9
0.081
8
Glucose2
0.4-43.2
0.006
Sr.
No.
Metabolite Name
Sr.
No.
Metabolite Name
1
N.D
9
0-1.8
0.053
Galactitol
0-20.7
4
Galactonate
5
7. Non-IEM Disorder:
Sr. No
Name of the Disorder
Result
1
Neuroblastoma
Absent
High Risk
Medium Risk
Low Risk
Normal
Control Value
Observed
Value
3Hydroxymandelate
0-0.1
N.D
2
HomoVanellicAcid
0.1-0.9
0.057
3
VinylMandelicAcid
0-3
0.108
Sr.
No.
Metabolite Name
1
Page 9 of 10
CRM-No. :
Patient Name :
Patient ID :
BABYSHIELD 111
TESTS DONE ON URINE SAMPLE
1
2
3
40
5-oxoprolinuria
AMINO ACID DISORDERS
41
Hyperglycinuria
78
Phenylketonuria (PKU)
42
Hypersarcosinemia
79
43
Imidazole aminoaciduria
80
44
Formiminoglutamic aciduria
81
Defects of biopterin cofactor biosynthesis
(BIOPT BS)
Defects of biopterin cofactor regeneration
(BIOPT REG)
FATTY ACID OXIDATION DISORDERS
Short-chain acyl- CoA dehydro- genase deficiency
(SCAD)
Medium-chain acyl- CoA dehydrogenase
deficiency (MCAD)
Long-chain acyl- CoA dehydrogenase deficiency
(LCAD)
Very Long-chain acyl- CoA dehydrogenase
deficiency (VLCAD)
Medium/Short-chain 3-hydroxyacyl-CoA
dehydrogenase deficiency (SCHAD)
4
GTP cyclohydrolase (GTPCH) deficiency
45
Serum carnosinase deficiency
82
5
Dihydropteridine reductase deficiency
46
Glutathionuria
83
6
Benign hyperphenylalaninemia (H-PHE)
47
Hyperpipecolatemia
84
7
Tyrosinemia type I
48
3-aminoisobutyric aciduria
85
8
Tyrosinemia type II
49
Histidinemia
86
9
Tyrosinemia type III
ORGANIC ACID DISORDERS
87
10
Transient tyrosinemia in infancy
50
Propionic acidemia (PPA)
11
Tyrosinemia caused by a liver disfunction
51
Multiple carboxylase deficiency
88
Zellweger syndrome
12
Maple syrup urine disease (MSUD)
52
Methylmalonic acidemia (MMA) - Cbl C, D
89
Neonatal adrenoleukodystrophy
53
Methylmalonyl- CoA mutase deficiency (MUT)
90
Infantile refsum disease (IRD)
54
Methylmalonic aciduria, cblA and cblB forms
(MMA, Cbl A,B)
91
Zellweger like syndrome (ZLS)
55
Malonic acidemia (MAL)
92
Primary hyperoxaluria
13
14
15
Carbamoylphosphate synthetase 1deficiency
Ornithine transcarbamylase (OTC)
deficiency
Citrullinemia
Long-chain 3- hydroxyacyl-CoA dehydrogenase
deficiency (LCHAD)
Mitochondrial trifunctional protein Deficiency
(MTPD)
Carnitine transport defect
Multiple acyl- CoA dehydrogenation deficiency
Medium-chain ketoacyl- CoA thiolase deficiency
(MCKAT)
PEROXISOMAL DISEASES
Isobutyryl-CoA dehydrogenase deficiency
(IBD)
2-Methylbutyryl-CoA dehydrogenase
deficiency (2MBG)
Methylmalonic semialdehyde dehydrogenase
deficiency
DISORDERS OF PURINE, PYRIMIDINE
METABOLISM
93
Adenosine deaminase deficiency
94
Lesch - Nyhan syndrome
16
Citrullinemia type II (CIT II)
56
17
Argininosuccinic aciduria
57
18
Argininemia
58
19
Hypermethioninemia
59
Beta- ketothiolase deficiency (BKT)
95
Partial deficiency of hypoxanthine- adenine
phosphoribosyltransferase deficiency
20
Homocystinuria
60
Isovaleric acidemia
96
Adenine phosphoribosyl transferase deficiency
21
Alkaptonuria
61
3-methylcrotonyl CoA carboxylase deficiency
97
Xanthinuria
22
Tryptophanuria with dwarfism
62
98
Orotic aciduria
23
Xanthurenic aciduria
63
99
Thymine- uraciluria
24
25
Valinemia
Hyperleucine- isoleucinemia
Dihydrolipoyl dehydrogenase(E3)
deficiency
3- hydroxyisobutyryl-CoA-deacylase
deficiency
64
65
3-methylglutaconic aciduria
3-hydroxy-3-methylglutaric aciduria (HMG
CoA lyase deficiency)
Glutaric aciduria type II
Glutaric aciduria type I
100
101
Dihydropyrimidinase deficiency
Hyperuric acidemia
66
Mevalonic acidemia
67
2-Methyl 3-hydroxy butyric aciduria
(2M3HBA)
102
Pyruvate dehydrogenase (E1) deficiency
28
Histidinuria
68
4-hydroxybutyric aciduria
103
Pyruvate dehydrogenase phosphatase deficiency
29
Hartnup disease
CARBOHYDRATE DISORDERS
104
Pyruvate carboxylase deficiency
30
Lysinuric Protein intolerance
69
Galactosemia
105
Pyruvate decarboxylase deficiency
31
Familial Renal iminoglycinuria
70
Galactokinase deficiency (GALK)
106
Leigh syndrome
32
Iminoglycinuria
71
Galactose epimerase deficiency (GALE)
33
2- ketoadipic aciduria
72
Transient galactosemia
107
Biotinidase deficiency
34
Saccharopinuria
73
Fructosuria
108
Canavan disease
35
Hydroxylysinuria
74
D-glyceric aciduria
109
36
Cystathioninuria
75
Fructose-1,6-diphosphatase deficiency
110
Fumarate hydratase deficiency
Hyperornithinemia-hyperammoninemiahyperhomocitrullinemia (HHH) syndrome
37
Hyperprolinemia type I
76
Endogenous sucrosuria
38
Hyperprolinemia type-II
77
Lactose Intolerance
39
Hyper hydroxyprolinemia
26
27
LACTIC ACIDEMIA,HYPERPYRUVIC ACIDEMIA
OTHER IEM
MISCELLANEOUS GENETIC CONDITION
111
Neuroblastoma
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