| Test code | Test | Blood Sample | CPT codes |
|---|---|---|---|
| 1001 | Deafness / Aminoglycoside Sensitivity Screen: mtDNA position1555 | $290.00 | (83907 if solid tissue) 83891, 83898, 83892, 83894x2, 83912 |
| 1004 | Neuromuscular Panel (MERRF, MELAS): mtDNA positions 8344, 3243, 3271 | $580.00 | (83907if solid tissue), 83891, 83898x3, 83892x3, 83894x3, 83912x2 |
| 1006 | LHON : mt DNA positions 3460, 11778, 14484, 14459 | $630.00 | (83907 if solid tissue), 83891, 83898x4, 83892x4, 83894x4, 83912x3 |
| 1007 | mtDNA mutation Screen: 1555, 3460, 3243, 3271, 8344, 8993x2, 11778, 14459, 14484 | $1,090.00 | (83907 if solid tissue), 83891, 83898x9, 83892x10, 83894x6, 83912x7 |
| 1008 | Known Familial mutation (RFLP) | $290.00 | (83907 if solid tissue), 83891, 83898, 83892, 83894x2, 83912 |
| 1009 | Southern Blot | $460.00 | (83907 if solid tissue), 83891, 83892x4, 83894x1, 83896x1, 83897x1, 83912x1 |
| 1010 | Full Mitochondrial Genome Sequencing | $2,980.00 | (83907 if solid tissue), 83891, 83898x8, 83894x1, 83904x88, 83912x37 |
| 1011 | Comprehensive Maternally Inherited Hearing Loss Panel, MT-RNR1, MT-TS1,MT-TL1,MT-TK | $690.00 | (83907 if solid tissue), 83891, 83898x4, 83894x1, 83904x12, 83912x4 |
| 1013 | mtDNA complex 1 subunit sequencing | $1,720.00 | (83907 if solid tissue), 83891, 83898x8, 83894x1, 83904x34, 83912x7 |
| 1014 | mtDNA complex 3 subunit sequencing | $515.00 | (83907 if solid tissue), 83891, 83898x2, 83894x1, 83904x8, 83912x1 |
| 1015 | mtDNA complex 4 subunit sequencing | $800.00 | (83907 if solid tissue), 83891, 83898x3, 83894x1, 83904x16, 83912x3 |
| 1016 | mtDNA complex 5 subunit sequencing | $460.00 | (83907 if solid tissue), 83891, 83898x1, 83894x1, 83904x4, 83912x2 |
| Test code | Test | Blood Sample | CPT codes |
|---|---|---|---|
| 4006 | OPA-1 (Optic Atrophy 1 ) gene Sequencing entire coding region | $2,870.00 | (83907 if solid tissue), 83891, 83898 x26, 83894, 83904x52, 83912 |
| 4008 | OPA-3? (Optic Atrophy 3 ) gene Sequencing entire coding region | $2,870.00 | (83907 if solid tissue), 83891, 83898x2, 83894, 83904x4, 83912 |
| 2003 | ANT-1 (SLC25A4) gene sequencing | $460.00 | (83907 if solid tissue), 83891, 83898 x4, 83894, 83904x8, 83912 |
| 2005 | POLG (Alpers, PEO, SANDO) | $1,720.00 | (83907 if solid tissue), 83891, 83898 x18, 83894, 83904x36, 83912 |
| 2006 | Twinkle (PEO1) gene sequencing | $690.00 | (83907 if solid tissue), 83891, 83898 x8, 83894, 83904x16, 83912 |
| 2007 | Thymidine Kinase TK2 gene sequencing | $1,150.00 | (83907 if solid tissue), 83891, 83898 x10, 83894, 83904x20, 83912 |
| 2008 | POLG2: AD PEO | $860.00 | (83907 if solid tissue), 83891, 83898 x9, 83894, 83904x18, 83912 |
| 2009 | SUCLA2: Mitochondrial Myopathy and Methylmalonic Aciduria | $1,260.00 | (83907 if solid tissue), 83891, 83898 x11, 83894, 83904x22, 83912 |
| 2010 | DGUOK: Hepatocerebral Mitochondrial Depletion Syndrome | $690.00 | (83907 if solid tissue), , 83891, 83898 x7, 83894, 83904x14, 83912 |
| 2011 | RRM2B: Encephalomyopathic Mitochondrial Depletion Syndrome with renal tubulopathy, AD-PEO | $920.00 | (83907 if solid tissue), 83891, 83898 x9, 83894, 83904x18, 83912 |
| 2012 | SURF1: Leigh Syndrome, complex 4 deficiency | $690.00 | (83907 if solid tissue), 83891, 83898 x5, 83894, 83904x10, 83912 |
| 2014 | MPV17: Hepatocerebral Mitochondrial Depletion Syndrome | $690.00 | (83907 if solid tissue), 83891, 83898 x6, 83894, 83904x12, 83912 |
| 2015 | TYMP?: Mingie (TYMP) Sequencing | $1,000.00 | (83907 if solid tissue), 83891, 83898 x9, 83894, 83904x18, 83912 |
| Test code | Test | Blood Sample | CPT codes |
|---|---|---|---|
| 5008 | IBMPFD VCP(Valosin containing Protein) gene Sequencing | $1,720.00 | (83907 if solid tissue), 83891, 83898 x17, 83894, 83904x34, 83912 |
| VCP sequencing if 5006 ordered previously | $1,540.00 | ||
| VCP sequencing if 5007 ordered previously | $1,300.00 | ||
| 5006 | IBMPFD VCP (Valosin containing Protein) exon 5 Sequencing | $340.00 | (83907 if solid tissue), 83891, 83898, 83894, 83904x2, 83912 |
| 5007 | IBMPFD VCP exon 3,5,6,7,10 Sequencing | $800.00 | (83907 if solid tissue), 83891, 83898 x5, 83894, 83904x10, 83912 |
| 5009 | SOD 1 (Superoxide Dismutase 1) gene Sequencing ? | $700.00 | (83907 if solid tissue), 83891, 83898x5, 83894, 83904x10, 83912 |
| Test code | Test | Blood Sample | CPT codes |
|---|---|---|---|
| 4001 | Leigh Syndrome Panel: mtDNA seq, POLG, Surf1 | $4,410.00 | (83907 if solid tissue), 83891, 83898x31, 83894x3, 83904x134, 83912x39 |
| 4002 | mtDNA depletion/multiple deletion panel: POLG1, SUCLA2, DGUOK, TK2 | $3.950.00 | (83907 if solid tissue), 83891, 83898x46, 83894x4, 83904x92, 83912x4 |
| 4003 | Myopathic mtDNA instability panel: POLG1, RRM2B, TK2, Twinkle | $3.950.00 | (83907 if solid tissue), 83891, 83898x45, 83894x4, 83904x90, 83912x4 |
| 4004 | Hepato-Cerebral mtDNA Instability panel: POLG1, DGUOK, MPV17, Twinkle | $3,380.00 | (83907 if solid tissue), 83891, 83898x39, 83894x4, 83904x78, 83912x4 |
| 4005 | Encephalomyopathic mtDNA Instability panel: POLG1, SUCLA2, RRM2B | $3,380.00 | (83907 if solid tissue), 83891, 83898x34, 83894x2, 83904x140, 83912x38 |
| 4007 | Ophthalmoplegia/PEO sequencing panel: POLG1, POLG2, Twinkle, ANT1 | $2,920.00 | (83907 if solid tissue), 83891, 83898x39, 83894x4, 83904x78, 83912x4 |
| Test code | Test | Blood Sample | CPT codes |
|---|---|---|---|
| 6001 | Nonsyndromic Hearing Loss GJB2, GJB6 sequencing & GJB6 deletion | $1,600.00 | 83891, 83898x8, 83894x3, 83904x10, 83912x3 |
| 6001a | GJB2 sequencing | $720.00 | 83891, 83898x3, 83894x1, 83904x6, 83912x1 |
| 6001b | GJB6 deletion | $360.00 | 83891, 83898x4, 83894x1, 83912x1 |
| 6001c | Pendred Targeted Mutation Analysis | $500.00 | 83891, 83898x6, 83894x1, 83904x12, 83912x1 |
| 6001d | Mitochondrial Genes 12s rRNA and tRNAser | $540.00 | 83891, 83898x2, 83894x1, 83904x4, 83912x1 |
| 6002 | GJB6 sequencing | $540.00 | 83891, 83898x1, 83894x1, 83904x4, 83912x1 |
| 6003 | Pendred Syndrome/ DFNB4, SLC26A4 sequencing | $2,500 | 83891, 83898x21, 83894x1, 83904x42, 83912x1 |
| Test code | Test | Blood Sample | CPT codes |
|---|---|---|---|
| 7001 | Holt‐Oram Syndrome, TBX5 sequencing | $1,100 | 83891, 83898x10, 83894x1, 83904x20, 83912x1 |
| 7003 | Barth Syndrome, G4.5/Tafazzin gene sequencing | $1,100.00 | 83891, 83898x11, 83894x1, 83904x22, 83912x1 |
| 7004 | Noncompaction, G4.5/Tafazzin gene sequencing | $1,100.00 | 83891, 83898x11, 83894x1, 83904x22, 83912x1 |
| 7005 | Noonan Syndrom, PTPN11 sequencing | $1,350.00 | 83891, 83898x15, 83894x1, 83904x30, 83912x1 |
| 7006 | DiGeorge Syndrome / Velocardiofacial Syndrome, TBX1 sequening | $1,100.00 | 83891, 83898x11, 83894x1, 83904x22, 83912x1 |
| 7002 | Nonsyndromic Congenital Heart Defect, NKx2.5, GATA4 sequencing | $1,900.00 | 83891X1, 83898x10, 83894x1, 83904x16, 83912x4 |
| 7002a | Nonsyndromic Congenital Heart Defect, NKx2.5 sequencing | $700.00 | 83891, 83898x3, 83894x1, 83904x6, 83912x1 |
| 7002b | Nonsyndromic Congenital Heart Defect, GATA4 sequencing | $1,350.00 | 83891, 83898x7, 83894x1, 83904x14, 83912x1 |
| Test code | Test | Blood Sample | CPT codes |
|---|---|---|---|
| 5001 | CTNS 57kb deletion screen | $350.00 | (83907 if solid tissue), 83891, 83898x2, 83894, 83912 |
| 5003 | CTNS gene Sequencing and 57kb deletion screen | $1,370.00 | (83907 if solid tissue), 83891, 83898 x15, 83894x2, 83904x26, 83912 |
| Test code | Test | Blood Sample | CPT codes |
|---|---|---|---|
| 8001 | Prader-Willi syndrome, Methylation test | $360.00 | 83891, 83898x5, 83894x1, 83912x1 |
| 8002 | Angelman syndrome, Methylation test | $360.00 | 83891, 83898x5, 83894x1, 83912x1 |
| 8003 | VSX1 (Visual System Homeobox 1) whole gene sequencing | $800.00 | 83891, 83898x6, 83894x1, 83904x12, 83912x1 |
| 8004 | MYOC (Myocillin) whole gene sequencing | $600.00 | 83891, 83898x7, 83894x1, 83904x14, 83912x1 |
| 8004 | MTTP (Microsomal Triglyceride Transfer Protein) whole gene sequencing | $1,800.00 | 83891, 83898x20, 83894x1, 83904x40, 83912x1 |
| 10001 | SRY gene, PCR | $360.00 | 83891, 83898x4, 83894X1 83912x1 |
| 9003 | DNA Extraction (research) | $100.00 | 83891 |
| 11001 | Known Familial Mutation single point confirmation | $290.00 | (83907 if solid tissue) 83891, 83898, 83894, 83904x2, 83912 |
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