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Providing insights into unclear health conditions through Mitochondrial testing

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Changes in hundreds of genes have been found to be associated with mitochondrial disorders.

Mitochondrial disorders often impact multiple organ systems, such as muscles, eyes, brain, or liver. These disorders, ranging from mild to severe, can be identified at any point during a patient’s life. Doctors may suspect a mitochondrial disorder when three or more organ systems are involved and may recommend further testing.

Scientists can study a person’s genes and identify changes in DNA. Some of these changes can cause a gene to function improperly. Most DNA is found within the nucleus of the cell; however, a smaller amount of DNA is found within the cell’s mitochondria. The genetic changes causing mitochondrial disorders can occur in either nuclear DNA (nDNA) or mitochondrial DNA (mtDNA).

Since mitochondrial disorders are genetic, they can be passed down from generation to generation. Disorders in nDNA can be inherited from the mother and/or the father. However, disorders due to defects in mtDNA can only be inherited from the mother. These disorders can also occur in patients with no family history, meaning it was not inherited.

Changes in hundreds of genes have been found to be associated with mitochondrial disorders. Testing for these genetic changes can typically be performed on a blood sample. However, in some cases it’s recommended to test mitochondrial DNA in affected tissue such as muscle to address issues of de novo mutation, mutation heteroplasmy, or mutation loss.

Mitochondrial disorders often impact multiple organ systems, such as muscles, eyes, brain, or liver. These disorders, ranging from mild to severe, can be identified at any point during a patient’s life. Doctors may suspect a mitochondrial disorder when three or more organ systems are involved and may recommend further testing.

Scientists can study a person’s genes and identify changes in DNA. Some of these changes can cause a gene to function improperly. Most DNA is found within the nucleus of the cell; however, a smaller amount of DNA is found within the cell’s mitochondria. The genetic changes causing mitochondrial disorders can occur in either nuclear DNA (nDNA) or mitochondrial DNA (mtDNA).

Since mitochondrial disorders are genetic, they can be passed down from generation to generation. Disorders in nDNA can be inherited from the mother and/or the father. However, disorders due to defects in mtDNA can only be inherited from the mother. These disorders can also occur in patients with no family history, meaning it was not inherited.

Changes in hundreds of genes have been found to be associated with mitochondrial disorders. Testing for these genetic changes can typically be performed on a blood sample. However, in some cases it’s recommended to test mitochondrial DNA in affected tissue such as muscle to address issues of de novo mutation, mutation heteroplasmy, or mutation loss.

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

Baylor Genetics offers a wide variety of mitochondrial testing options. Choices range from deletion / duplication to next-generation sequencing with a variety of panels to choose from. Uncertainty surrounding you or your child’s symptoms can be a restless time for you and your family. Through mitochondrial testing, our team of experts focuses on finding the genetic cause of you or your child’s medical condition. Reaching a diagnosis can offer guidance for appropriate treatment options providing your family with greater peace of mind.

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 (MitoNGSSM)

2085

Dual Genome Panel by Massively Parallel Sequencing (BCM_MitomeNGSSM)

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

Mitochondiral Respiratory Chain Complex II Deficiency Panel (5 genes)

2165

Mitochondiral 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

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 (MitoNGSSM)

2085

Dual Genome Panel by Massively Parallel Sequencing (BCM_MitomeNGSSM)

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

Mitochondiral Respiratory Chain Complex II Deficiency Panel (5 genes)

2165

Mitochondiral 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

Delivering Simple Solutions to Complex Symptoms

PRODUCT OVERVIEW
REQUISITION
Specimen Requirements
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

50mg for Tissue

Fresh Tissue should be flash frozen in liquid nitrogen at collection with no media added, stored at -80°C, and shipped by overnight courier on 3-5 lbs of dry ice.

Liver

50mg for Liver

Liver should be flash frozen in liquid nitrogen at collection with no media added, stored at -80°C, and shipped by overnight courier on 3-5 lbs of dry ice.

Purified DNA

Send at least 5ug of purified DNA (minimal concentration of 50ng/uL; 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

50mg for Muscle

Skeletal Muscle should be flash frozen in liquid nitrogen at collection with no media added, stored at -80°C, and shipped by overnight courier on 3-5 lbs of dry ice.
CONSENT FORM
Online Order
MEDICAL NECESSITY FORM
Request Test Kit

How It Works:

Order appropriate testing for your patient.

The patient’s sample is collected.

The patient’s sample is sent to Baylor Genetics.

Results are sent to the physician.

Discuss the results with the patient.

More questions? Please contact us by calling 1.800.411.4363.

Yue Wang
Yue Wang
PhD, FACMG
Clinical Director, NGS/Molecular
Positive findings in clinical mitochondrial genome testing by NGS

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.

Whole genome sequencing of mitochondria: a powerful tool for clinical diagnosis of human mitochondrial diseases

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.

Interpretation of mitochondrial tRNA variants

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.

Clinical and laboratory interpretation of mitochondrial mRNA variants

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.

Low-level large deletions in mitochondrial genome: a potential diagnosis for mitochondrial diseases

Yang J, Chen T, Kao E, et al. Low-level large deletions in mitochondrial genome: a potential diagnosis for mitochondrial diseases. Poster presented at: American College of Medical Genetics and Genomics (ACMG) 2024 Annual Meeting; March 12-16, 2024; Toronto, Canada.

A comprehensive strategy for accurate mutation detection of the highly homologous PMS2 gene

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

Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types

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

Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects

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

Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2

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

Shp deletion prevents hepatic steatosis and when combined with Fxr loss protects against type 2 diabetes

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

FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome

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

FBXL4 defects are common in patients with congenital lactic academia and encephalomyopathic mitochondrial DNA depletion syndrome

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

Improved diagnosis of inherited retinal dystrophies by high fidelity PCR of ORF15 followed by NGS

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

Rapid molecular diagnostics of severe primary immunodeficiency by targeted next-generation sequencing

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

Detection and quantification of mosaic mutations in disease genes by next generation sequencing

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

Fatty acid oxidation-driven Src links mitochondrial energy reprogramming and oncogenic properties in triple-negative breast cancer

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

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS

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