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Test Menu

Note: MitoMed Laboratory accepts Urine, Blood, Buccal Swaps or Fresh Muscle (biopsy) as samples for molecular testing.

Mitochondrial DNA Tests

Test Number Test Name Description
1007 mtDNA common mutation screen mtDNA positions 1555, 3460, 3243, 3271, 8344, 8993x2, 11778, 14459, 14484
1004 mtDNA neuromuscular mutation panel MERRF and MELAS: mtDNA positions 8344, 3243, 3271
1011 Comprehensive mitochondrial hearing loss mutation panel sequencing of 12srRNA, tRNAser, tRNAleu, tRNAlys
1001 Aminoglycoside related hearing loss mutation screen mtDNA position 1555
1006 Leber's Hereditary Optic Neuropathy panel mtDNA positions 3460, 11778, 14484, 14459
1008 mtDNA custom testing for a single mutation Single mtDNA point mutation analysis for any of the mutations offered in the common deletion screen
1010 Full mitochondrial genome sequencing --
1013 Complex I mtDNA subunits Sequencing of all mitochondrially encoded Complex I (ND) subunits
1014 Complex 3 mtDNA subunits Sequencing of mitochondrially encoded Complex 3 subunit (cytochrome b)
1015 Complex 4 mtDNA subunits Sequencing of all mitochondrially encoded Complex 4 (COX) subunits
1016 Complex 5 mtDNA subunits Sequencing of mitochondrially encoded Complex 5 subunits (A6 and A8)
1009 mtDNA Large Deletions/ Duplications/Rearrangements mtDNA instability/PEO, Kearns Sayre, Pearsons - Southern Blot

Mitochondrial Nuclear Gene Tests

Test Number Test Name Description
4006 Optic Atrophy (DOA) - OPA1 OPA1 gene sequencing
4008 Optic Atrophy (DOA) – OPA3 OPA3 gene sequencing
2003 AD Progressive External Opthalmoplegia (PEO), cardiomyopathy ANT1 (SLC25A4) gene sequencing
2005 POLG-related disorders AD-PEO, SANDO, MIRAS - POLG1 gene sequencing)
2006 Infantile-onset spinocerebellar ataxia (IOSCA), AD-PEO Twinkle (PEO-1) gene sequencing
2007 Myopathic mtDNA Depletion TK-2 gene sequencing
2008 AD PEO POLG2 gene sequencing
2009 Mitochondrial Myopathy and Methylmalonic Aciduria SUCLA2 gene sequencing
2010 Hepatocerebral Mitochondrial Depletion Syndrome DGUOK gene sequencing
2011 Encephalomyopathic Mitochondrial Depletion Syndrome, AD-PEO RRM2B gene sequencing
2012 Leigh Syndrome, complex IV deficiency SURF1 gene sequencing
2014 Hepatocerebral Mitochondrial Depletion Syndrome MPV17 gene sequencing
2014 MINGIE TYMP gene sequencing

IBMPFD/ALS

Test Number Test Name Description
5006 IBMPFD VCP Exon 5 VCP exon 5 sequencing
5007 IBMPFD VCP Multiple Exons VCP exons 3, 5, 6, 7 & 10 sequencing
5008 IBMPFD VCP VCP (Valosin-Containing Protein) gene sequencing
5009 ALS - SOD1 SOD1 (Superoxide Dismutase 1) gene sequencing

Mitochondrial Nuclear Gene Tests and Panels

Test Number Test Name Description
4001 Leigh Syndrome Panel Full mitochondrial genome sequencing, POLG1, Surf1
4002 mtDNA Depletion and Multiple Deletion Panel POLG1, SUCLA2, DGUOK, TK2
4003 Myopathic mtDNA Instability Panel POLG1, RRM2B, TK2, Twinkle
4004 Hepatocerebral mtDNA Instability Panel POLG1, DGUOK, MPV17, Twinkle
4005 Encephalomyopathic mtDNA Instability Panel POLG1, SUCLA2, RRM2B
4007 Opthalmoplegia / PEO Panel POLG1, POLG2, Twinkle, ANT1

Hearing Loss Gene Tests and Panels

Test Number Test Name Description
6001 Nonsyndromic Sensory Neural Hearing Loss Panel GJB2 (Connexin 26) Sequencing, GJB6 (Connexin 30) Deletion, Pendred Targeted Mutation Analysis (p.Leu236Pro, p.Thr416Pro, c1001+1G>A), Mitochondrial genes (12SrRNA and tRNAser)
6001a - GJB2 (Connexin 26) gene sequencing
6001b - GJB6 (Connexin 30) deletion analysis
6001c - Pendred targeted mutation Analysis: p.Leu236Pro, p.Thr416Pro, c1001+1G>A
6001d - Mitochondrial genes 12SrRNA and tRNAser
6002 Connexin 30 GJB6 gene sequencing
6003 Pendred Syndrome DFNB4/SLC26A4 gene sequencing

Cardiovascular Gene Tests and Panels

Test Number Test Name Description
7001 Holt-Oram Syndrome TBX5 gene seuqencing
7003 Barth Syndrome Barth Syndrome / Endocardial Fibroelastosis Type 2 / Endocardial Fibroelastosis, X-Linked / MGA, Type II: G4.5 / Tafazzin gene sequencing
7004 Noncompaction of Left Ventricular Myocardium G4.5, Tafazzin gene sequencing
7005 Noonan Syndrome PTPN11 gene sequencing
7006 DiGeorge Syndrome/Velocardiofacial Syndrome TBX1 gene sequencing for 22q11 negative patients
7002 Nonsyndromic Congenital Heart Defect Panel NKx2.5 gene sequencing, GATA4 gene sequencing
7002a - NKx2.5 gene sequencing
7002b - GATA4 gene sequencing

Cystinosis

Test Number Test Name Description
5001 Cystinosis CTNS 57 kb Deletion Screen
5003 Cystinosis CTNS Gene Sequencing and 57 kb Deletion Screen

Other Tests

Test Number Test Name Description
8001 Prader-Willi Syndrome Methylation Test
8002 Angelman Syndrome Methylation Test
8003 Keratoconus / Posterial Polymorphous Corneal Dystrophy VSX1 (Visual System Homeobox 1) gene sequencing
8004 Glaucoma MYOC (Myocillin) gene sequencing
8005 Abetalipoprotenemia MTTP (Microsomal Triglyceride Transfer Protein) gene sequencing
10001 Y Chromosome SRY gene detection
9003 DNA Extraction (Research) (specify in requisition form)
9004 Other Research Project (specify in requisition form)
11001 Mutation Confirmation Known Familial Mutation Confirmation (specify in requisition form)

| MitoMed Home | Test Menu | Requisitions | Sample Requirements and Transport |
| Shipping Information | Prices and CPT Codes | Contact MitoMed | Donate to MitoMed |


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