• Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit




Associated disorders

The RYR1 gene is associated with autosomal dominant and recessive central core disease (CCD) (MedGen UID: 199773), autosomal recessive congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177), and autosomal recessive multiminicore disease (MmD) (MedGen UID: 388775). It is also associated with autosomal dominant centronuclear myopathy (CNM) (MedGen UID: 799613) and malignant hyperthermia susceptibility type 1 (MHS1) (MedGen UID: 833963).

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RYR1: Deletion/duplication analysis is not offered for exons 48 or 49.

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Invitae tests that include this gene:

RYR1 has been found to account for 90% of CCD cases and an estimated 20% of MmD cases.

RYR1 encodes the skeletal muscle ryanodine receptor protein. This protein’s function is to serve as the channel through which stored calcium flows from the lumen of the sarcoplasmic reticulum into the cytoplasm ennabling muscle contraction.

Assay and technical information

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, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
RYR1* NM_000540.2

*RYR1: Deletion/duplication analysis is not offered for exons 48 or 49.