SGCA
GTR Test Accession: Help GTR000512340.3
INHERITED DISEASEMUSCULOSKELETALNERVOUS SYSTEM ... View more
Last updated in GTR: 2015-12-20
Last annual review date for the lab: 2024-03-13 LinkOut
At a Glance
Diagnosis
Autosomal recessive limb-girdle muscular dystrophy type 2D; Limb-girdle muscular dystrophy
Genes (1): Help
SGCA (17q21.33)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Not provided
Not provided
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Ordering Information
Offered by: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
Lab contact: Help
Angela Abicht, MD, Lab Director
abicht@mgz-muenchen.de
+49 8930908860
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Not provided
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Alamut: PolyPhen-2, SIFT, Align GVGD, MAPP, SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, Human Splicing Finder, MutationTaster

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sanger Sequencing: Sensitivity >98%; NGS: Our diagnostic criteria requires: (i) at least 98% of the sequencing reads have a quality score (Q) above 30 (99,9% accurate), (ii) a median per base sequence quality score (Q) above 30 (99,9% accurate), (iii) at least 98% of the region of interest have over … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN

Description of PT method: Help
Molecular Genetics Sequencing
VUS:
Laboratory's policy on reporting novel variations Help
Decline to answer
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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