Test Code: 9831

Brody Myopathy: ATP2A1 Gene Sequencing
Test Code: 9831
Turnaround time: 7 weeks

CONDITION DESCRIPTION

Brody myopathy, also known as Brody disease, is an autosomal recessive inherited disorder of skeletal muscle function. Features include impairment of skeletal muscle relaxation after exercise, muscle stiffness, and cramps. Mutations in the ATP2A1 gene (16p12), which encodes SERCA1, have been identified in individuals with Brody myopathy. Odermatt et al. (1996) identified splice site and truncating mutations in the ATP2A1 gene of individuals with Brody myopathy.

References:
• OMIM #601003: Brody Myopathy
• OMIM #108730: ATP2A1 gene
• Odermatt et al. (1996). Nature Genetics, 14:191-194

GENES
ATP2A1

INDICATIONS
This test is indicated for:

  • Confirmation of a clinical diagnosis of Brody myopathy.
  • Carrier testing in adults with a family history of Brody myopathy.

METHODOLOGY

Next Generation Sequencing: In-solution hybridization of all coding exons is performed on the patient’s genomic DNA. Although some deep intronic regions may also be analyzed, this assay is not mean to interrogate most promoter regions, deep intronic regions, or other regulatory elements, and does not detect single or multi-exon deletions or duplications. Direct sequencing of the captured regions is performed using next generation sequencing. The patient’s gene sequences are then compared to a standard reference sequence. Potentially causative variants and areas of low coverage are Sanger-sequenced. Sequence variations are classified as pathogenic, likely pathogenic, benign, likely benign, or variants of unknown significance. Variants of unknown significance may require further studies of the patient and/or family members.

DETECTION

Clinical Sensitivity: Unknown. Mutations in the promoter region, some mutations in the introns and other regulatory element mutations cannot be detected by this analysis. Large deletions will not be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient’s clinical and/or biochemical phenotype.

Analytical Sensitivity: ~99%

SPECIMEN REQUIREMENTS

Submit only 1 of the following specimen types
* Preferred specimen type: Whole Blood

Type: Whole Blood
Specimen Requirements:
In EDTA (purple top) or ACD (yellow top) tube: Infants (2 years): 3-5 ml
Older Children & Adults: 5-10 ml

Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.

Type: Saliva
Specimen Requirements:
OrageneTM Saliva Collection kit (available through CEN4GEN) used according to manufacturer instructions.

Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.

RELATED TESTS

  • Custom diagnostic mutation analysis (test code: 6875) is available to family members if mutations are identified by targeted mutation testing or sequencing analysis.