The Invitae Limb-Girdle Muscular Dystrophy Panel analyzes genes associated with limb-girdle muscular dystrophy (LGMD), a heterogeneous group of conditions characterized by muscle weakness and wasting primarily affecting the limb-girdle musculature. These genes were curated based on currently available evidence to provide a comprehensive test for the genetic causes of LGMD. Some genes in this test may also be associated with additional unrelated disorders, which are not included in the list of disorders tested. Genetic testing of these genes may help confirm a clinical diagnosis, help predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials.
ANO5 CAPN3 CAV3 DAG1 DES DMD DNAJB6 DYSF FKRP FKTN GAA GMPPB GOSR2 HNRNPDL ISPD LAMA2 LMNA MYOT PLEC PNPLA2 POMGNT1 POMGNT2 POMK POMT1 POMT2 SGCA SGCB SGCD SGCG SMCHD1 TCAP TK2 TNPO3 TOR1AIP1 TRAPPC11 TRIM32 TTN
KBTBD13 LIMS2
Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future.
ANO5 CAPN3 CAV3 DAG1 DES DMD DNAJB6 DYSF FKRP FKTN GAA GMPPB GOSR2 HNRNPDL ISPD LAMA2 LMNA MYOT PLEC PNPLA2 POMGNT1 POMGNT2 POMK POMT1 POMT2 SGCA SGCB SGCD SGCG SMCHD1 TCAP TK2 TNPO3 TOR1AIP1 TRAPPC11 TRIM32 TTN
Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future.
KBTBD13 LIMS2
Broad disorder tested:
Individual disorders tested:
To view the complete clinical description of this panel, click here.
Limb-girdle muscular dystrophy can be inherited in an autosomal dominant, autosomal recessive, or X-linked pattern.
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below. In addition, the analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.
Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.
Gene | Transcript reference | Sequencing analysis | Deletion/Duplication analysis |
---|---|---|---|
ANO5 | NM_213599.2 | ||
CAPN3* | NM_000070.2 | ||
CAV3 | NM_033337.2 | ||
DAG1 | NM_004393.5 | ||
DES | NM_001927.3 | ||
DMD* | NM_004006.2 | ||
DNAJB6 | NM_058246.3 | ||
DYSF | NM_003494.3 | ||
FKRP | NM_024301.4 | ||
FKTN* | NM_001079802.1 | ||
GAA* | NM_000152.3 | ||
GMPPB | NM_021971.2 | ||
GOSR2 | NM_004287.3 | ||
HNRNPDL | NM_031372.3 | ||
ISPD | NM_001101426.3 | ||
KBTBD13 | NM_001101362.2 | ||
LAMA2 | NM_000426.3 | ||
LIMS2 | NM_001136037.2 | ||
LMNA | NM_170707.3 | ||
MYOT | NM_006790.2 | ||
PLEC | NM_000445.4; NM_201378.3 | ||
PNPLA2 | NM_020376.3 | ||
POMGNT1 | NM_017739.3 | ||
POMGNT2 | NM_032806.5 | ||
POMK | NM_032237.4 | ||
POMT1 | NM_007171.3 | ||
POMT2 | NM_013382.5 | ||
SGCA | NM_000023.2 | ||
SGCB | NM_000232.4 | ||
SGCD | NM_000337.5 | ||
SGCG | NM_000231.2 | ||
SMCHD1 | NM_015295.2 | ||
TCAP | NM_003673.3 | ||
TK2 | NM_004614.4 | ||
TNPO3 | NM_012470.3 | ||
TOR1AIP1 | NM_001267578.1 | ||
TRAPPC11 | NM_021942.5 | ||
TRIM32 | NM_012210.3 | ||
TTN* | NM_001267550.2 |
CAPN3: Deletion/duplication analysis is not offered for exon 24.
DMD: Analysis guarantees del/dup detection at single-exon resolution.
FKTN: Analysis includes the intronic variant NM_001079802.1:c.647+2084G>T (also known as NM_001079802.1:c.648-1243G>T) and the ~3 kb retrotransposon insertion in the 3' UTR at position NM_001079802‚Äã.1:c.*4392_*4393.
GAA: Analysis includes the promoter variant NM_000152.3:c.-32-13T>G as well as the common exon 18 deletion.
TTN: Exons 45-46, 147, 149, 158-201, 212-216 (NM_001267550.2) are excluded from analysis. TTN variants are reported in the primary report based on functional effect and/or location. A complete list of variants of uncertain significance, likely benign and benign variants in TTN is available upon request. Variants are named relative to the NM_001267550.2 (meta) transcript, but only variants in the coding sequence and intronic boundaries of the clinically relevant NM_133378.4 (N2A) isoform are reported (PMID: 25589632).