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

Mitochondrial DNA Tests

Test Code Test Name Description
1001 Deafness / Aminoglycoside Sensitivity Screen mtDNA position1555
1004 mtDNA neuromuscular mutation panel MERRF and MELAS: mtDNA positions 583 G>A, 3243 A>G, 3256 C>T, 3271 T>C, 3291 T>C, 3697 G>A, 4332 G>A, 8344 A>G, 8356 T>C, 8363 G>A, 12147 G>A, 13513 G>A, and 13514 A>G
1006 LHON mutation panel mt DNA positions 3460 G>A, 3635 G>A, 3697 G>A, 3700 G>A, 3733G>A, 4171 C>A, 10197 G>A, 10663 T>C, 11778 G>A, 13513 G>A, 14459 G>A, 14482 C>G, 14482 C>A, 14484 T>C, 14495 A>G, and 14568 C>T
1007 mtDNA common mutation screen mtDNA positions: 583 G>A, 1494 C>T, 1555 A>G, 1606 G>A, 3243 A>G, 3256 C>T, 3260 A>G, 3271 T>C, 3291 T>C, 3302 A>G, 3303 C>T, 3460 G>A, 3635 G>A, 3697 G>A, 3700 G>A, 3733 G>A, 4171 C>A, 4298 G>A, 4300 A>G, 4308 G>A, 4332 G>A, 5537 A>AT, 5650 G>A, 5703 G>A, 7445 A>G, 7471C>CC, 7497 G>A, 7511 T>C, 8344A>G, 8356 T>C, 8363 G>A, 8993 T>C, 8993 T>G, 9176 T>C, 9176 T>G, 9185 T>C, 10010 T>C, 10158 T>C, 10191 T>C, 10197 G>A, 10663 T>C, 11777 C>A, 11778 G>A, 12147 G>A, 12315 G>A, 12706 T>C, 13513 G>A, 13514 A>G, 14459 G>A, 14482 C>G, 14482 C>A, 14484 T>C, 14487 T>C, 14495 A>G, 14568 C>T, 14674 T>C, 14709 T>C
1008 Known Familial mutation Use test code 11001
1010 Full Mitochondrial Genome Sequencing
1011 Comprehensive Maternally Inherited Hearing Loss (include MIDD) Panel MT-RNR1, MT-TS1,MT-TL1,MT-TK, MT-TE
1013 mtDNA complex 1 subunit sequencing
1014 mtDNA complex 3 subunit sequencing
1015 mtDNA complex 4 subunit sequencing CYTOCHROME c OXIDASE DEFICIENCY

Nuclear Encoded Gene Tests

Test Code Test Name Description
2003 ANT1 (SLC25A4) gene sequencing
2005 POLG (Alpers, PEO, SANDO, POLG-Related Disorders)
2006 Twinkle (PEO1/C10orf2) gene sequencing
2007 Thymidine Kinase TK2 Gene sequencing
2008 POLG2 AD PEO
2009 SUCLA2 Mitochondrial Myopathy and Methylmalonic Aciduria
2010 DGUOK Hepatocerebral Mitochondrial Depletion Syndrome
2011 RRM2B Encephalomyopathic Mitochondrial Depletion Syndrome with renal tubulopathy, AD-PEO
2012 SURF1 Leigh Syndrome, complex 4 deficiency
2014 MPV17 Hepatocerebral Mitochondrial Depletion Syndrome
2015 TYMP Mingie
4006 OPA-1 (Optic Atrophy 1) gene Sequencing entire coding region
4008 OPA-3 (Optic Atrophy 3) gene Sequencing entire coding region

IBMPFD / ALS

Test Code Test Name Description
5006 IBMPFD VCP (Valosin containing Protein) exon 5 Sequencing
5007 IBMPFD VCP (Valosin containing Protein) VCP exons 3, 5, 6, 7, 10 sequencing
5008 IBMPFD VCP (Valosin containing Protein) gene Sequencing
5008 VCP sequencing if 5006 ordered previously
5008 VCP sequencing if 5007 ordered previously

Mitochondrial Nuclear Gene Panels

Test Code Test Name Description
4001 Leigh Syndrome Panel mtDNA seq, POLG, Surf1
4002 mtDNA depletion/multiple deletion panel POLG1, SUCLA2, DGUOK, TK2
4003 Myopathic mtDNA instability panel POLG1, RRM2B, TK2, Twinkle
4004 Hepato-Cerebral mtDNA Instability panel POLG1, DGUOK, MPV17, Twinkle
4005 Encephalomyopathic mtDNA Instability panel POLG1, SUCLA2, RRM2B
4007 Ophthalmoplegia/PEO sequencing panel POLG1, POLG2, Twinkle, ANT1

Hearing Loss Gene Test Panels

Test Code Test Name Description
6001 Nonsyndromic Hearing Loss GJB2, GJB6 deletion, Pendred Target Mutation Analysis, and 12s rRNA & tRNAser sequencing
6001a Nonsyndromic Hearing Loss GJB2 sequencing
6001a_1 Nonsyndromic Hearing Loss GJB2 Known Familial variants
6001b Nonsyndromic Hearing Loss GJB6 deletion
6001c Nonsyndromic Hearing Loss Pendred Targeted Mutation Analysis
6001d Nonsyndromic Hearing Loss Mitochondrial Genes 12s rRNA and tRNAser
6002 Nonsyndromic Hearing Loss Connexin 30 / GJB6 sequencing
6003 Pendred Syndrome SLC26A4 full gene sequencing

Cardiovascular Gene Test Panels

Test Code Test Name Description
7006 DiGeorge Syndrome / Velocardiofacial Syndrome TBX1 sequening

Cystinosis

Test Code Test Name Description
5001 CTNS 57kb deletion screen
5002 CTNS Tiers II Full CTNS gene sequencing
5003 CTNS Tiers I and II 57 kb deleletion screen and CTNS sequencing

Other Tests

Test Code Test Name Description
11001 Known Familial mutation single point confirmation
8003 VSX1 (Visual System Homeobox 1)
8005 MTTP (Microsomal Triglyceride Transfer Protein) whole gene sequencing
9003 DNA Extraction (Clinical/Research)