Limb Girdle Muscular Dystrophy, Autosomal Recessive (LGPCR)

Limb Girdle Muscular Dystrophy, Autosomal Recessive (LGPCR) - Mutation Analysis

Order Code:	LGPCR
Epic Lab Code:	LAB2395
Order Form:	A-1a Molecular Pathology/Diagnostics or Epic Req

Molecular Pathology
6004 BT GH
384-9568

Specimen:

Whole Blood

Collection Medium:

Lavender top tube 3 mL (EDTA)

Minimum:

Adults - 3 mL whole blood in lavender top tube (EDTA) Children - 2 mL whole blood in lavender top tube (EDTA) Testing on smaller volumes than those requested will be attempted. However, in some cases, small blood volumes may compromise the ability to perform testing. Testing requires a dedicated collection tube. Do not freeze.

Delivery Instructions:

Room temperature for up to 24 hours, then refrigerate the whole blood if it is necessary to be held overnight, or weekends, or holidays.

Testing Schedule:

0800-1700 Testing offered once per week excluding weekends and University holidays.

Analytic Time:

2 weeks

Reference Range:

By report

Comments:

Direct detection of mutations for alpha sarcoglycan R77C, beta sarcoglycan S114F and fukutin-related protein L276I.

Methodology:

Polymerase Chain Reaction - Amplification Refractory Mutation System (ARMS).

CPT Code:

83890, 83894, 83900, 83901, 83912; if paraffin block or fresh tissue is submitted, remove CPT code 83890 and add 83907.

See also:
FKRP Sequencing, Whole Blood
Limb-Girdle Muscular Dystrophy (LGMD), Muscle Biopsy