Mitochondrial diseases are a group of disorders originating from mutations in mitochondrial DNA (mtDNA) or mitochondrial components encoded in the nuclear genome. These disorders can result in a wide spectrum of pathological conditions, often with significant neurologic and myelopathic symptoms. Many commonly seen conditions can be classified as discrete clinical syndromes; however, the presentation and severity of the conditions may vary, creating challenges in diagnosis and treatment.

We provide Mitochondrial Sequencing services to diagnose mitochondrial disorders caused by mutations within the mitochondrial genome and nuclear genes. Subsequent downstream analysis and diagnostic interpretation of disease is then produced. This will provide clinicians with actionable information by identifying the mtDNA changes that may be responsible for the patient's disorder.

Next-generation sequencing technologies have made mitochondrial sequencing affordable to clinicians and patients.

For the sequencing data analysis, we have developed a pipeline for performing various bioinformatics analysis including alignment, high quality variant calling, and comprehensive annotation.

Mitochondrial Testing may be Useful For:

• Individuals with clinical symptoms characteristic of a specific mitochondrial disorder
• Individuals with a neurological symptom or having multiple complex neurological features
• Children presenting with lactic acidosis
• Individuals with any progressive multisystem disorder of unknown etiology
• Assessing inheritance patterns for at risk-family members based on family history

Requirements Prior to Testing:

The Mitochondrial Sequencing test must be prescribed by a physician and accompanied by a signed consent form from the patient. The test result will be sent to the physician directly. The patient will have to consult his/her physician to understand the results and its impact on his/her medical ailment.

If the patient wishes to assess his own inheritance pattern directly, he can sign the consent form and get the test done privately.

Application	Sample Source	Sample Collection	Shipping Instruction
GERMLINE VARIATIONS	Blood	5 ml per sample, in EDTA tubes	As soon as possible after collection, on ice
	DNA (from blood)	Minimum 3 µg per sample, high quality,non-degraded genomic DNA with A260/A280 ratio of >= 1.8	On ice
	Fresh frozen tumor material & Matched, adjacent normal tissue(essential for calling somatic mutations)	Histological verification of >70% of sample as tumor content	On dry ice
	DNA(from tumor and matched normal sample)	Minimum 3 µg per sample, high quality,non-degraded genomic DNA with A260/A280 ratio of >= 1.8	On ice
TUMOR MUTATION PROFILING	Blood (in place of matched normal tissue)	5 ml per sample, in EDTA tubes	As soon as possible after collection, on ice