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Congenital Muscular Dystrophy (LAMA2) deletion/duplication analysis

Test Name

Congenital Muscular Dystrophy (LAMA2) deletion/duplication analysis

Home Collection, Lab Visit

Test Code

GEN0006

Test Components/ Genes/ Parameters

laminin-α2 (LAMA2) gene

Sample Report

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Test Information

TAT DETAILS

10 Days

PRE-TEST INSTRUCTIONS

Clinical History of Patient

CLINICAL UTILITY

Sequence analysis of LAMA2 detects small intragenic deletions/insertions and missense, nonsense, and splice site variants

SPECIMEN STABILITY

NA

METHODOLOGY

MLPA

STORAGE TEMPERATURE

NA

SPECIMEN TYPE

Amniotic Fluid, Chorionic Villus Sample, Peripheral Venous Blood, Cord blood, Extracted DNA, Dry Blood Spot