DNA Diagnostic Laboratory at Johns Hopkins 2014 Test, Fee and CPT Code List *If targeted testing for a known mutation or prenatal testing is desired, please contact the lab for fees and CPT codes. Includes Next Generation Sequencing (NGS) panels Test / Gene Name 2014 CPT Full Test Full Test Fee Acatalasemia (NGS) 81479 $2,450.00 Alpha Methylacyl‐CoA Racemase Deficiency (NGS) 81479 $2,450.00 Achondroplasia/Hypochondroplasia FGFR3 panel 81404 $542.00 Achondroplasia/Hypochondroplasia FGFR3 panel 81404 $542.00 Achondroplasia/Thanatophoric Dysplasia FGFR3 panel 81404 $662.00 Antley‐Bixler Like Syndrome FGFR2 panel 81404 $422.00 Apert Syndrome FGFR2 panel 81479 $302.00 Aplastic Anemia TERT/TR sequence 81479 $2,354.00 Ataxia Telangiectasia (ATM sequence; NGS) 81408 $2,750.00 Bannayan‐Riley‐Ruvalcaba PTEN sequence 81321 $1,434.00 Beta Thalassemia HBB 619bp deletion only 81403 $240.00 Beta Thalassemia HBB sequence and 619bp deletion 81404; 81403 $720.00 Hb S (Sickle Cell) and Hb C (HBB ) 81401 $302.00 Campomelic Dysplasia SOX9 sequence 81479 $902.00 CF Linkage Analysis 81479 $344.00 CFTR Intron 8 T/TG tract typing 81224 $302.00 CFTR MLPA 81222 $429.00 Cystic Fibrosis (CFTR sequence; NGS) 81223 $2,450.00 Cystic Fibrosis and CF‐Related Disorders (Includes CFTR) (NGS) 81223; 81406 x 3; 81479 $2,750.00 Cystic Fibrosis‐Related Disorders (Excludes CFTR) (NGS) 81406 x 3; 81479 $2,600.00 Childhood Interstitial Lung Disease Coronal Craniosynostosis FGFR2, FGFR3 panel Cowden Syndrome PTEN sequence Craniofrontonasal Syndrome EFNB1 sequence Crouzon Syndrome FGFR2, FGFR3 panel Crouzon Syndrome with Acanthosis Nigricans FGFR3 panel Dyskeratosis Congenita TERT/TR sequence Huntington Disease Huntington Disease‐Like HDL2 Idiopathic Polmonary Fibrosis TERT/TR sequence Liddle Syndrome SCNN1B and SCNN1G panel Loeys‐Dietz 1C, SMAD3 Loeys‐Dietz Syndrome TGFBR1 sequence Loeys‐Dietz Syndrome TGFBR2 sequence Macrocephaly/Autism PTEN sequence Marfan Syndrome Type 2 TGFBR2 sequence Updated: Sepember 2, 2014 81479 x 5 81404; 81403 81321 81479 81404; 81403 81403 81479 81401 81479 81479 81479 81479 81405 81405 81321 81405 $4,854.00 $542.00 $1,434.00 $1,022.00 $542.00 $302.00 $2,354.00 $355.00 $437.00 $2,354.00 $662.00 $994.00 $773.00 $937.00 $1,434.00 $937.00 * This is a reflexed test ‐ see web site for details * This is a reflexed test ‐ see web site for details * This is a reflexed test ‐ see web site for details *This is a reflexed test. Full test fee is accurate if all tests are needed. **81479 will be billed at various prices. See web site for details. * This is a reflexed test ‐ see web site for details * This is a reflexed test ‐ see web site for details 1 DNA Diagnostic Laboratory at Johns Hopkins 2014 Test, Fee and CPT Code List *If targeted testing for a known mutation or prenatal testing is desired, please contact the lab for fees and CPT codes. Includes Next Generation Sequencing (NGS) panels Test / Gene Name 2014 CPT Full Test Full Test Fee Mulibrey Nanism (NGS) 81479 $2,450.00 Neonatal Respiratory Distress / Pulmonary Alveolar Proteinosis NKX2‐1 Gene sequence NKX2‐1 MLPA Oculodentodigital Dysplasia GJA1 sequence Peroxisomal β‐Oxidation Defects Panel (NGS) Peroxisomal Genes Panel, Comprehensive (NGS) Primary Hyperoxaluria (NGS) Pfeiffer Syndrome FGFR2, FGFR3, FGFR1 panel Pseudohypoaldosteronism Type 1 Panel (NGS) Pseudohypoparathyroidism 1A: GNAS methylation Pseudohypoparathyroidism 1A: GNAS sequence Pseudohypoparathyroidism 1B: GNAS methylation Refsum Disease Panel (NGS) Rhizomelic Chondrodysplasia Punctata Type 1 Panel (NGS) SADDAN FGFR3 panel Saethre‐Chotzen Syndrome FGFR2, FGFR3, TWIST1 panel Saethre‐Chotzen Syndrome TWIST MLPA SCARB1 variant Sickle Cell Anemia/ Hemoglobin C HBB panel Surfactant Deficiency ABCA3 sequence Surfactant Deficiency ABCA3 MLPA Surfactant Deficiency SFTPB sequence Surfactant Deficiency SFTPB MLPA Surfactant Deficiency SFTPC sequence Treacher Collins Syndrome Panel (NGS) Treacher Collins Syndrome TCOF1 sequence von Hippel‐Lindau Syndrome VHL sequence von Hippel‐Linday Syndrome VHL MLPA X‐Adrenoleukodystrophy ABCD1 MLPA X‐Adrenoleukodystrophy ABCD1 sequence Zellweger Spectrum Disorder Panel (NGS) Zellweger Spectrum Disorder PEX1 MLPA Zellweger Spectrum Disorder + Peroxisomal β‐Oxidation Defects Updated: Sepember 2, 2014 81479 x 6 81479 81479 81479 81479 x 3 81479 x 24 81479 81404; 81403; 81479 81406 x 3; 81479 81479 81479 81479 81479 x 2 81479 81479 81403; 81404; 81479 81479 81479 81403 81479 81479 81479 81479 81479 81479 x 3 81479 81404 81403 81479 81405 81479 x 13 81479 81479 x 16 $5,920.00 $882.00 $429.00 $662.00 $2,601.00 $4,104.00 $2,450.00 $662.00 $2,600.00 $482.00 $1,478.00 $482.00 $2,450.00 $2,601.00 $302.00 $662.00 $429.00 $302.00 $302.00 $2,332.00 $429.00 $1,022.00 $429.00 $782.00 $2,601.00 $2,630.00 $542.00 $429.00 $541.00 $1,158.00 $3,211.00 $541.00 $3,664.00 **81479 will be billed at various prices ‐ see web site for details * This is a reflexed test ‐ see web site for details * This is a reflexed test ‐ see web site for details * This is a reflexed test ‐ see web site for details * This is a reflexed test ‐ see web site for details * This is a reflexed test ‐ see web site for details * This is a reflexed test ‐ see web site for details * This is a reflexed test ‐ see web site for details * This is a reflexed test ‐ see web site for details * This is a reflexed test ‐ see web site for details * This is a reflexed test ‐ see web site for details * This is a reflexed test ‐ see web site for details * This is a reflexed test ‐ see web site for details * This is a reflexed test ‐ see web site for details * This is a reflexed test ‐ see web site for details * This is a reflexed test ‐ see web site for details 2
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