Now Available: 

• 16 common mitochondrial point mutations and deletion/duplication testing of mtDNA and 116 nuclear genes
• POLG sequencing

The prevalence of mitochondrial disorders has been estimated at 1/5000 - 1/8500.
Mitochondrial disorders are clinically heterogeneous and result from dysfunction of the mitochondrial respiratory chain, which can be caused by mutations in mitochondrial DNA (mtDNA) or in nuclear genes.  Mitochondrial disorders may affect a single organ, but many involve multiple organ systems particularly those that are highly dependent on aerobic metabolism (brain, skeletal muscle, heart, kidney and endocrine system).  Patients may present at any age. Often the clinical features are highly variable and non-specific and many affected persons do not fit into one particular category. Recently, it has been estimated that approximately 7% of patients diagnosed with autism may have an underlying disorder of mitochondrial function. 

Special Considerations for Mitochondrial Disorders:  (See Test Information Sheet for additional details)
Testing is performed on mitochondrial and genomic DNA obtained from a blood or other tissue sample. While mutations in nuclear genes are easily detectable from a blood specimen, some mtDNA mutations may be undetectable in blood cells. A blood sample and tissue biopsy from the patient are preferable for the testing panel.  POLG seqeuencing can be performed on blood or other tissue.

Specimen requirements are described below. Please call for additional information.

• Blood: Whole blood in EDTA; Adults: 8-10 ml; Children: 4-6 ml; Infants: 2-3 ml.  Ship overnight at ambient temperature, using a cool pack in hot weather. Specimens may be refrigerated for up to 7 days prior to shipping.
• Tissue biopsies (muscle or liver):  >50mg, frozen within minutes after collection, stored at -80°C and shipped on dry ice with overnight delivery.
• DNA: should be of good quality, provide tissue source, concentration should be >100 nanograms/microliter, amount >5 micrograms.
• Cultured fibroblasts: two T25 flasks. Keep back up cultures.
• Prenatal Diagnosis for a known familial nuclear DNA mutations ONLY: 10 mL amniotic fluid, 5 mg CVS, or 2 T25 flasks. Keep backup cultures.
• Buccal Brushes: NOT accepted for this test. 

 Sample Submission Form (Includes payment options and consent form)  

Test Information Sheets (Include prices and CPT codes):

 Mitochondrial Disorder deletion/duplication panel for mtDNA and 116 nuclear genes and 16 Common mtDNA point mutations

List of Nuclear Genes on Deletion/Duplication Panel

 POLG sequencing