Mitochondrial Genome Deletions/Duplications: Southern Blot

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Condition Description

Indications

Mitochondrial disorders such a Kearns Sayre, Chronic Progressive External Opthalmoplegia (CPEO) and Leigh Disease.

Methodology

Southern analysis of mitochondrial genome following digestion with EcoRV, BamHI and SnaBI.

Detection and Reference Range

Detection
Over 95% of large mitochondrial deletions.
Reference Range
Qualitative assay.

Specimen Requirements

Submit only 1 of the following specimen types

Type: Whole Blood

Specimen Requirements:

In EDTA (purple top) or ACD (yellow top) tube:
Infants (<2 years): 3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml

Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.

Type: Muscle Biopsy

Specimen Requirements:

1-2 mm in length or > 100 mg is acceptable.

Flash freeze sample upon collection using liquid nitrogen. If storage is required, store sample at -80o C or colder.

Specimen Collection and Shipping: Ship frozen sample on dry ice with overnight delivery.

How to Order