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Mitochondrial DNA (mtDNA) Point Mutations and Deletions

Synonyms	LAB11629 MITOMUT MTDNA POINT MUTATIONS AND DELETIONS
Cerner Name	zzmtDNA Point Mutations and Del
Clinical Info	Molecular confirmation of a clinical diagnosis Testing of patients suspected of having a mitochondrial disorder
Specimen Sources	Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous
Specimen Types	Blood
Specimen Volume	Whole Blood: Adults: 8-10 ml; Children: 4-6 ml;
Container	Lavender Top Tube
Collection Instructions	Container/Tube: Lavender EDTA top or Tissue Biopsy (muscle or liver) Specimen: Whole Blood: Adults: 2-5 ml; Children: 1-2 ml; Tissue - Submit >50 mg, frozen within minutes after collection Transport Temperature: Room Temperature Whole Blood, Tissue Frozen Ship blood separately, overnight at ambient temperature, using a cool pack in hot weather. DO NOT FREEZE BLOOD. Blood specimens may be refrigerated for up to 7 days prior to shipping
Transport Instructions	Room Temperature Whole Blood, Tissue Frozen
Specimen Stability
Methodology	Next-Gen Sequencing
Days Performed	TAT: 3-4 Weeks
Performing Laboratories	GeneDx Test Code 704
CPT	81465 81460
PDM	5902712
Results
Result Interpretation See report Variant List: G583A, C1494T, A1555G, G1606A, G1644A, A3243G, C3256T, A3260G, T3271C, T3291C, A3302G, C3303T, G3376A, G3460A, G3635A, G3697A,G3700A, G3733A, G3733C, G3890A, C4171A, G4298A, A4300G, G4308A, G4332A, A5537insT, G5650A, G5703A, A7445G, C7471CC (='7472insC'), G7497A, T7511C, A8344G, T8356C, G8363A, T8528C, T8993C, T8993G, T9176C, T9176G, T9185C, T10010C, T10158C, T10191C, G10197A, T10663C, C11777A, G11778A, G12147A, G12315A, T12706C, G13051A, G13513A, A13514G, G14459A, C14482G, C14482A, T14484C, T14487C, A14495G, C14568T, T14674C, T14709C, T14849C, T14864C and large deletions
Forms	Test Information Sheet

Molecular-send outs LAB11629