Limb-Girdle Muscular Dystrophy (LGMD), Autosomal Recessive Common Variants with Interpretation
| Label Mnemonic: | LGPCR |
| Epic code: | LAB2395 |
| Downtime form: | A-1a Doctor/Provider Orders - Pathology Molecular |
Molecular Pathology
6004 BT GH
384-9568
6004 BT GH
384-9568
Specimen(s):
Whole Blood
Collection Medium:
 |
| Pink top tube 6 mL (K2-EDTA) |
Minimum:
Adults - 3 mL whole blood in pink top tube (EDTA)
Children - 2 mL whole blood in pink 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.
Children - 2 mL whole blood in pink 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.
Turn Around
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:
81479
See also:
Limb Girdle Muscular Dystrophy (LGMD), Muscle Biopsy
FKRP Full Gene Sequence with Interpretation, Whole Blood
Limb Girdle Muscular Dystrophy (LGMD), Muscle Biopsy
FKRP Full Gene Sequence with Interpretation, Whole Blood