Clinics and Departments

Laboratory Services

Lab Dept:

Anatomic Pathology

Test Name:

MITOCHONDRIAL (MTDNA) DNA POINT MUTATIONS AND DELETION SCREEN

General Information

Lab Order Codes:

MDNA

Synonyms:

Advanced mtDNA Point Mutations and Deletions; mtDNA Deletion Syndromes Screen

CPT Codes:

81401 x5 – Molecular Pathology procedure, Level 2
81479 x10 – Molecular Pathology, Unlisted

Test Includes:

This test includes 36 common mitochondrial DNA mutations in 17 mitochondrial genes (Screens for 36 common point mutations and deletions in MELAS, MERRF, NARP, Leigh Syndrome, LHON, Cardiomyopathy, Deafness and/or Diabetes, Pearson Syndrome, and Kearns-Sayre Syndrome):

MT-RNR1, MT-TV, MT-TL1, MT-ND1, MT-TI, MT-CO1/MT-TS1 precursor, MT-TK, MT-ATP6, MT-TG, MT-ND3, MT-ND4, MT-TH, MT-TS2/MT-TL2, MT-TL2, MT-ND5, MT-ND6, MT-TE

Logistics

Test Indications:

Multisystemic disorders involving neuromuscular, neurosensory, CNS, cardiac, renal, haptic, GI, Immune, endocrine, etc, systems. Family history of mitochondrial disorders. Matrilinear family members with known mitochondrial DNA mutations. Confirmation of mitochondrial disease. Asymptomatic carrier testing.

In genereal, this test can detect mtDNA mutations in at least 85% of patients with primary mtDNA defect.

Lab Testing Section:

Anatomic Pathology - Sendouts

Referred to:

Baylor College of Medicine, Department of Molecular and Human Genetics (Test: 2010)

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

Daily 24 hours, set up once a week

Turnaround Time:

28 days

Special Instructions:

The provider must obtain a parent signature for the Baylor Consent Form and complete a Baylor Genetics Request Form. These forms must accompany the patient or specimen to the laboratory. Testing and subsequent release of results will be delayed if this information is not collected and submitted with the specimen.

Specimen

Specimen Type:

Whole blood

Container:

Lavender top (EDTA) tube

Draw Volume:

Children: 3-5 mL blood
Infants:3 mL blood
Adults: 3-5 mL blood

Processed Volume:

Same as Draw Volume

Collection:

● Routine venipuncture
● Send Baylor Genetics Request and Consent Forms with a parent/guardian signature and the clinical history completed by the provider with the specimen to the lab.

Special Processing:

Lab Staff: Do Not freeze blood, refrigerate. Ship blood at room temperature and within 24 hours of collection. A mitochondrial diagnostics check list and test request form must accompany the specimen. Call Baylor College of Medicine for additional forms at 1-800-411-4383 or go to http://www.bcm.edu/geneticlabs/index.cfm?pmid=9246. Forward promptly.

Patient Preparation:

None

Sample Rejection:

Frozen samples; mislabeled or unlabeled specimens

Interpretive

Reference Range:

No mutation detected

Critical Values:

N/A

Limitations:

N/A

Methodology:

Massively Parallel Sequencing (MPS)

References:

Baylor College of Medicine June 2014
(800) 411-4363 Fax (713) 798-2787

Updates:

1/5/2005: Moved from Athena Diagnostic Laboratories to Georgetown. Note changes in draw volume and test includes sections.
5/18/2005: Moved from Georgetown University to Baylor College of Medicine. Note changes in CPT coding, specimen collection volumes, requisition/paperwork requirements, and methodology. Single deletion testing has been expanded to include maternally inherited diabetes/hearing loss.
1/26/2012: CPT update.
6/17/2014: Method change, replaced original test 3000.



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