Baylor Genetics Mitochondrial Testing

Providing insights into unclear health conditions through Mitochondrial testing.

Gain additional insights into your patients with complex clinical presentations with mitochondrial testing.

What is Mitochondrial testing?

Mitochondrial testing can help identify genetic changes causing mitochondrial disorders in either the nuclear DNA (nDNA) or mitochondrial DNA (mtDNA). Mitochondrial disorders may result from genetic changes in nDNA or mtDNA. Genetic changes in nDNA may be inherited from one or both parents. Genetic changes in mtDNA are only inherited from an individual’s mother. Changes in mtDNA might be new to the affected patient (de novo) or inherited from their mother who has a change in some mitochondria but not enough altered mtDNA to be affected herself.

Who should consider Mitochondrial testing?

Mitochondrial disorders can be identified at any point in a patient’s life. Multiple systems are often impacted by these disorders – the systems affected and severity of symptoms can vary greatly even between other affected family members.

Mitochondrial disorders might be caused by nDNA or mDNA changes …

Mitochondrial Brochure

HCP Brochure

…inherited from an affected parent

…inherited from unaffected parents

…not inherited from either affected parent

Some of the most commonly affected organ systems:

Brain

Seizures
Stroke-like Episodes
Dementia
Developmental Delay and/or Learning Problems

Eyes

Vision Problems

GI Tract

Diabetes
Digestive Issues

Heart

Heart Issues

Muscle

Weakness
Lack of Coordination

If a mitochondrial disorder is suspected based on clinical symptoms or family history, additional genetic testing may be recommended to confirm the diagnosis.

Common Symptoms:

Ataxia
Dementia
Developmental delay
Diabetes and other endocrine symptoms

Gastrointestinal symptoms, such as pseudo-obstruction and dysmotility
Laboratory abnormalities, such as elevated lactate: pyruvate ratio
Myopathy and cardiomyopathy
Neuropathy

Seizures
Stroke or stroke-like episodes
Vision and hearing deficits

Mitochondrial Tests

TEST CODE	PANEL NAME
2000	MitoMet®Plus aCGH Analysis
2010	Advanced mtDNA Point Mutations and Deletions by Massively Parallel Sequencing (17 genes)
2055	Comprehensive mtDNA Analysis by Next Generation Sequencing (MitoNGS^SM)
2085	Dual Genome Panel by Massively Parallel Sequencing (BCM_MitomeNGS^SM)
2086	Mitome200 Nuclear Panel (164 nuclear genes)
2100	CoQ10 Deficiency Panel (5 genes)
2130	mtDNA Depletion/Integrity Panel (19 genes)
2140	Progressive External Ophthalmoplegia (PEO) Panel (10 genes)
2155	Mitochondrial Respiratory Chain Complex I Deficiency Panel (21 genes)

TEST CODE	PANEL NAME
2160	Mitochondrial Respiratory Chain Complex II Deficiency Panel (5 genes)
2165	Mitochondrial Respiratory Chain Complex III Deficiency Panel (4 genes)
2170	Mitochondrial Respiratory Chain Complex IV Deficiency Panel (10 genes)
2175	Mitochondrial Respiratory Chain Complex V Deficiency Panel (3 genes)
2180	Mitochondrial Respiratory Chain Complex I – V Panel (43 genes)
2185	PDH & Mitochondrial Respiratory Chain Complex V Panel (9 genes)
20601	Leigh Disease Panel (82 nuclear genes)

TEST CODE	PANEL NAME
2095	Fatty Acid Oxidation Deficiency Panel (20 genes)
2100	CoQ10 Deficiency Panel (5 genes)
2105	Cholestasis Panel (7 genes)
2110	UCD and Hyperammonemia Panel (8 genes)
2120	Cobalamin Metabolism Panel + Severe MTHFR Deficiency by Massively Parallel Sequencing (20 genes)
2125	Glycogen Storage Disease (GSD) Comprehensive Panel (23 genes)
2126	Glycogen Storage Disease (GSD) Muscle Panel (13 genes)
2127	Glycogen Storage Disease (GSD) Liver Panel (13 genes)
2300	Myopathy/Rhabdomyolysis Panel (25 genes)
2345	Trifunctional Protein Deficiency Panel (2 genes)
2347	Propionic Acidemia Panel (2 genes)

TEST CODE	PANEL NAME
2349	Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Panel (3 genes)
3780	Methylmalonic Acidemia Panel (3 genes)
3782	3-Methylcrotonyl-CoA Carboxylase (3MCC) Panel (2 genes)
5095	Congenital Disorders of Glycosylation (CDG) Panel (36 genes)
5270	Proximal Urea Cycle Disorders Panel (3 genes)
5405	Hemochromatosis Panel by Sanger Sequencing (5 genes)
21700	Hyperinsulinism Panel (8 genes)
21900	Maturity Onset Diabetes of the Young (MODY) Panel (25 genes)
22100	Peroxisomal Disorders Panel (22 genes)
32870	Maple Syrup Urine Disease (MSUD) Panel (4 genes)

TEST CODE	PANEL NAME
3200	Mitochondrial Respiratory Chain Enzyme Analysis (ETC) – Skeletal Muscle
3210	Mitochondrial Respiratory Chain Enzyme Analysis (ETC) – Skin Fibroblasts
3700	Mitochondrial DNA Content (qPCR) Analysis – Skeletal Muscle
3720	Mitochondrial DNA Content (qPCR) Analysis – Liver

Gorman E, Dai H, Feng Y, Craigen WJ, Chen DCY, Xia F, Meng L, Liu P, Rigobello R, Neogi A, Eng CM, Wang Y. Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis. Front Genet. 2025 Mar 5;16:1488956. doi: 10.3389/fgene.2025.1488956. PMID: 40110048; PMCID: PMC11920145.

Chau MHK, Anderson SA, Song R, Cooper L, Ward PA, Yuan B, Shaw C, Stankiewicz P, Cheung SW, Vossaert L, Wang Y, Owen NM, Smith J, Bacino CA, Schulze KV, Bi W. Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage. Clin Chem. 2025 Jan 3;71(1):141-154. doi: 10.1093/clinchem/hvae188. PMID: 39749505.

Yang J, Kao CY, Jiang Y, et al. Positive findings in clinical mitochondrial genome testing by NGS. Presented at: Annual Meeting of The American Society of Human Genetics; October 27, 2022; Los Angeles, CA.

Yang J, Wang L, Kao CY, et al. Whole genome sequencing of mitochondria: a powerful tool for clinical diagnosis of human mitochondrial diseases. Presented at: The ASHG Annual Meeting 2021; October 18-22, 2021; Virtual Experience.

Wong LC, Chen T, Schmitt ES, et al. Clinical and laboratory interpretation of mitochondrial mRNA variants. Hum Mutat. 2020;41(10):1783-1796. doi:10.1002/humu.24082.

Wong LC, Chen T, Wang J, et al. Interpretation of mitochondrial tRNA variants [published correction appears in Genet Med. 2020 May;22(5):979. doi: 10.1038/s41436-020-0770-0] [published correction appears in Genet Med. 2020 Jun;22(6):1130. doi: 10.1038/s41436-020-0802-9]. Genet Med. 2020;22(5):917-926. doi:10.1038/s41436-019-0746-0.

Almannai M, Dai H, El-Hattab AW, Wong LJC. (2017) FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. PMID: 28383868

Akinrotimi O, Riessen R, VanDuyne P, Lee YK, Wong LJ, Zavacki AM, Schoonjans K, Anakk S. Shp deletion prevents hepatic steatosis and when combined with Fxr loss protects against type 2 diabetes. Hepatology 2017: PMID: 28586124

Kartvelishyvili E, Tworowski D, Vernon H, Chrzanowska-Lightowlers Z, Moor N, Wang J, Wong LJ, Safro M. Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2. Protein Science 2017 PMID: 28419689

Wang J, Yu H, Zhang VW, Tian X, Feng YM, Wang G, Gorman E, Wang H, Lutz RE, Schmitt ES, Peacock S, Wong LJ. Capture-based high coverage NGS: a powerful tool to uncover a wide spectrum of mutation types. Genet in Med. 2016 May;18(5):513-21. doi: 10.1038/gim. 2015.121. Epub 2015 Sep 24. PMID: 26402642

Li J, Tang J, Feng Y, Xu MC, Chen R, Zou X, Sui RF, Chang EY, Lewis RA, Zhang VW, Wang J, Wong LJ. Improved diagnosis of inherited retinal dystrophies by high fidelity PCR of ORF15 followed by NGS. J Mol Diagn. 2016 PMID: 27620828

Yu H, Zhang VW, Stray-Pedersen A, et al. Wong LJ. Rapid molecular diagnostics of severe primary immunodeficiency by targeted next-generation sequencing. J Allergy Clin Immunol. 2016, 138:1142-51. doi: 10.1016/j.jaci.2016.05.035. PMID: 27484032

Qin L, Wang J, Tian X, Yu H, Truong C, Mitchell JJ, Wierenga KJ, Craigen WJ, Zhang VW, Wong LJ. Detection and quantification of mosaic mutations in disease genes by next generation sequencing. J Mol Diagn. 2016 May;18(3):446-53. doi: 10.1016/j.jmoldx. 2016.01.002. Epub 2016 Mar 2. PMID: 26944031

Dai HZ, Zhang VW, El-Hattab AW, Ficicioglu C, Shinawi M, Lines M, Schulze A, McNutt M, Gotway G, Tian X, Chen S, Wang J, Craigen WJ, Wong LJ. FBXL4 defects are common in patients with congenital lactic academia and encephalomyopathic mitochondrial DNA depletion syndrome. Clin Genet 2016 doi:10.1111/cge.12894 PMID: 27743463

Park JH, Vithayathil S, Kumar S, Sung PL, Dobrolecki LE, Putluri V, Bhat VB, Bhowmik SK, Gupta V, Arora K, Wu D, Tsouko E, Zhang Y, Maity S, Donti TR, Graham BH, Frigo DE, Coarfa C, Yotnda P, Putluri N, Sreekumar A, Lewis MT, Creighton CJ, Wong LJ, Kaipparettu BA. Fatty acid oxidation-driven Src links mitochondrial energy reprogramming and oncogenic properties in triple-negative breast cancer. Cell Rep. 2016 Mar 8;14(9):2154-65. doi: 10.1016/ j.celrep.2016.02.004. Epub 2016 Feb 25. PMID: 26923594

Tian X, Liang WC, Feng YM, Wang J, Zhang VW, 6 others, Wong LJ, Jong YJ. Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. Neurol Genet. 2015 Aug 13;1(2):e14. doi: 10.1212/NXG.0000000000000015. eCollection 2015. [Editorial comments, Neurol Genet] PMID: 27066551

Li J, Dai H, Feng Y, Tang J, Chen S, Tian X, Gorman E, Schmitt ES, Hansen T, Wang J, Plon SE, Zhang VW, Wong LJ. A comprehensive strategy for accurate mutation detection of the highly homologous PMS2 gene. J Mol Diagn. 2015 Sep;17(5):545-53. doi: 10.1016/j.jmoldx. 2015.04.001. [with Press Release] PMID: 26320870

Tang S, Wang J, Zhang VW, Li FY, Landsverk M, Cui H, Truong CK, Wang G, Chen LC, Graham B, Scaglia F, Schmitt ES, Craigen WJ, Wong LJ. Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects. Hum. Mutat. 2013 June;34(6):882-93. Pubmed PMID: 23463613

Jun Yang, Tiansheng Chen1, Eric Kao, Jie Dong, John Lattier, Hongzheng Dai, Linyan Meng, Fan Xia, Eric S. Schmitt, Sandra Peacock, Robert Rigobello, William J Craigen, Lee-Jun C Wong, Christine M. Eng, Yue Wang. Poster presented at UMDF, 2024.

Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 Mar;25(3):439-447. doi: 10.1038/s41591-018-0334-x. Epub 2019 Jan 28. Erratum in: Nat Med. 2019 Apr;25(4):701-702. doi: 10.1038/s41591-019-0391-9. PMID: 30692697.

Mitochondrial Test Resources

Mitochondrial Brochure

HCP Brochure

Requisition

SAMPLE TYPE	REQUIREMENTS	SHIPPING CONDITIONS
Blood	Draw blood in an EDTA (purple-top) tube(s) and send 3–5 cc (Adults/Children) and 3–5 cc (Infant	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
Cord Blood	1–2 cc for Cord Blood. Ensure properly labeled. Also send 3 cc of maternal blood in properly labeled EDTA tube for MCC studies at no charge as needed.	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
Cultured Skin Fibroblast	Send three (3) T25 flasks at approximately 60–80% confluence.	Ship at ambient temperature in an insulated container by overnight courier.
Fresh Frozen Tissue	50 mg for Tissue	Flash freeze in liquid nitrogen at collection with no media added, store at -80°C, and ship by overnight courier on 3–5 lbs of dry ice.
Liver	50 mg for Liver	Flash freeze in liquid nitrogen at collection with no media added, store at -80°C, and ship by overnight courier on 3–5 lbs of dry ice.
Purified DNA	Send at least 5 µg of purified DNA (minimal concentration of 50 ng/µL; A260/A280 of ~1.7).	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
Saliva	Collected with Oragene DNA Self-Collection Kit.	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
Skeletal Muscle	50 mg for Muscle	Flash freeze in liquid nitrogen at collection with no media added, store at -80°C, and ship by overnight courier on 3–5 lbs of dry ice.