Mitochondrial Mutation, Known

General Information

Lab Name
Lab Code: 691
Description: This test can only be performed if there is a previously identified familial mutation or unclassified variant. A laboratory report containing the relative's mutation information, the specific biological relationship of this patient to the previously tested relative and the clinical status of this patient (symptomatic or asymptomatic) must be submitted with the specimen. If the original familial mutation was identified in another laboratory, this testing must be discussed with a Baylor genetic counselor prior to sending a specimen. This analysis will provide targeted analysis and heteroplasmy quantification for mtDNA point mutations and unclassified variants. The detection threshold of massively parallel sequencing analysis for heteroplasmic mitochondrial DNA point mutations is approximately 1.5% for the Illumina HiSeq 2000 platform. This analysis will not provide heteroplasmy quantification for mtDNA large deletion and multiple deletions.

To order this test, complete the Baylor Genetics Mitochondrial Requisition.

Baylor Genetics: Targeted mtDNA Analysis by MPS
Synonyms: Leber, Leber's Hereditary Optic Neuroretinopathy, Leigh Syndrome, LHON, MELAS, MERRF, NARP
Components

Method: Next Generation (NextGen) Sequence Analysis using an Illumina HiSeq 2000 platform.
Reference Range

Receiving Instructions

Hold and transport sample at room temperature.

Login: GSEND1-;ROOM TEMP

A completed Baylor Genetics Requisition must accompany all submissions.

Sendouts, ship sample priority overnight at room temperature.

Lab Department

Frequency

Turn-around Time: 50 days

Available STAT?

Performing Location(s)

Sendout	Baylor Miraca Genetics Laboratories, LLC 800-411-4363 2450 Holcombe Blvd. Houston, TX 77021