|Delta-Sarcoglycan (SGCD) Gene Sequencing||
Analysis of the entire coding region: Sequence analysis
Polymerase chain reaction (PCR)
|Container Type||Container Size||Specimen Volume|
Purple tube (EDTA)
|4 mL||4 mL-8 mL|
Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)
- Do not centrifuge
- Do not freeze
Reasons for Rejection
- Centrifuged specimen
- Wrong collection tube
- Frozen specimen
- Clotted specimen
- Delayed or improper handling
Please click on the Lab Form Link in the Forms Section to print and complete the Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required, and submission of informed consent form is recommended but not required. If available, please also muscle biopsy results.
This test is a full gene sequencing of the SGCD (delta-sarcoglycan) gene.
Presence of a pathogenic variant (mutation) in both alleles of this gene causes limb-girdle muscular dystrophy (LGMD) type 2F, which is a sarcoglycanopathy type of LGMD and is inherited in autosomal recessive manner. In addition, heterozygous mutations in this gene that have dominant-negative effect on the SGCD protein have been associated with dilated cardiomyopathy type 1L. Limb-Girdle muscular dystrophy (LGMD) is a diverse group of disorders affecting the voluntary muscles, mainly around the pelvic (hip) and shoulder regions. Inheritance in LGMD can be autosomal dominant (LGMD type 1) or autosomal recessive (LGMD type 2). It is sometimes difficult to distinguish the different forms of LGMD based on clinical symptoms alone. To determine which gene(s) should be analyzed, a patient may undergo a muscle biopsy. Please submit information regarding muscle biopsy results if available.