Providing insights into unclear health conditions through Mitochondrial testing

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

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)

Delivering Simple Solutions to Complex Symptoms

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<2yrs).

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.

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.

Genetic Counselor
Clinical Director, NGS/Molecular
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