Dilated Cardiomyopathy and Limb-Girdle Muscular Dystrophy Type 2F via the SGCD Gene
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 8645 | SGCD | 81405 | 81405,81479 | $990 | Order Options and Pricing |
Pricing Comments
Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).
Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).
The Sanger Sequencing method for this test is NY State approved.
For Sanger Sequencing click here.Turnaround Time
3 weeks on average for standard orders or 2 weeks on average for STAT orders.
Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.
Targeted Testing
For ordering sequencing of targeted known variants, go to our Targeted Variants page.
Clinical Features and Genetics
Clinical Features
Dilated cardiomyopathy (DCM) is a heterogeneous disease of the cardiac muscle. It is characterized by dilatation of the left, right, or both ventricles, systolic dysfunction, and diminished myocardial contractility. Symptoms include arrhythmia, dyspnea, chest pain, palpitation, fainting, and congestive heart failure (Ikram et al. Br Heart J 57:521-527, 1987). Additional features may include woolly hair and myopathy (Moller et al. Eur J Hum Genet 17:1241-1249, 2009). Sudden death occurs in ~30% of patients with DCM (Tamburro and Wilber Am Heart J 124:1035-1045, 1992). Although symptoms of DCM usually begin in adulthood, an extensive clinical variability between individuals concerning the age of onset, penetrance, and extent of structural and functional abnormality has been documented. The prevalence of DCM has been estimated at ~1/2700 (Codd et al. Circulation 80:564-572, 1989).
Genetics
Up to 30% of DCM cases are familial (Grunig et al. Am Coll Cardiol 31:186-194, 1998). In about half of these families, DCM is inherited in an autosomal dominant manner (AD-DCM). In rare families, the disease is transmitted with autosomal recessive, X-linked, or mitochondrial inheritance. AD-DCM is caused by defects in genes encoding myocardial proteins. Defects in 24 genes, including SGCD, have been reported in patients with AD-DCM (Hershberger GeneReviews, 2009). SGCD variants are a rare cause of AD-DCM (Tsubata et al. J Clin Invest 106:655-662, 2000; Karkkainen et al. J Mol Med 81:795-800, 2003). Homozygous and compound heterozygous SGCD variants have also been reported in patients with autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) (Nigro et al. Nat Genet 14:195-198, 1996).
Clinical Sensitivity - Sequencing with CNV PGxome
Unknown at this time.
Testing Strategy
This test provides full coverage of all coding exons of the SGCD gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).
Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).
Indications for Test
Patients with symptoms suggestive of DCM and no variants in genes more frequently mutated in DCM patients and patients with suspected sarcoglycanopathy and no variants in the SGCA, SGCB, or SGCG genes. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SGCD.
Patients with symptoms suggestive of DCM and no variants in genes more frequently mutated in DCM patients and patients with suspected sarcoglycanopathy and no variants in the SGCA, SGCB, or SGCG genes. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SGCD.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| SGCD | 601411 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Diseases
| Name | Inheritance | OMIM ID |
|---|---|---|
| Dilated Cardiomyopathy 1L | 606685 | |
| Limb-Girdle Muscular Dystrophy, Type 2F | AR | 601287 |
Related Test
| Name |
|---|
| Comprehensive Cardiology Panel |
Citations
- Codd MB. et al. 1989. Circulation. 80: 564-72. PubMed ID: 2766509
- Grünig E. et al. 1998. Journal of the American College of Cardiology. 31: 186-94. PubMed ID: 9426039
- Hershberger RE, Morales A. 2013. Dilated Cardiomyopathy Overview. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301486
- Ikram H. et al. 1987. British heart journal. 57: 521-7. PubMed ID: 3620228
- Karkkainen, S., et.al. (2003). "A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy." J Mol Med 81(12): 795-800. PubMed ID: 14564412
- Møller DV. et al. 2009. European journal of human genetics : EJHG. 17: 1241-9. PubMed ID: 19293840
- Nigro, V., et.al. (1996). "Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene." Nat Genet 14(2): 195-8. PubMed ID: 8841194
- Tamburro P., Wilber D. 1992. American heart journal. 124: 1035-45. PubMed ID: 1529877
- Tsubata, S., et al. (2000). "Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy." J Clin Invest 106(5):655-662. PubMed ID: 10974018
Ordering/Specimens
Ordering Options
We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.
myPrevent - Online Ordering
- The test can be added to your online orders in the Summary and Pricing section.
- Once the test has been added log in to myPrevent to fill out an online requisition form.
- PGnome sequencing panels can be ordered via the myPrevent portal only at this time.
Requisition Form
- A completed requisition form must accompany all specimens.
- Billing information along with specimen and shipping instructions are within the requisition form.
- All testing must be ordered by a qualified healthcare provider.
For Requisition Forms, visit our Forms page
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
PGxome (Exome) Sequencing Panel
PGnome (Genome) Sequencing Panel
Loading...
×
ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.