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Beaumont Laboratory

Malignant Hyperthermia Susceptibility Testing (RYR1 Gene Screening)

RYR1 Gene Screening, Malignant Hyperthermal Panel

Instructions

This test is not included in the Beaumont Laboratory testing formulary, however, the Laboratory can facilitate specimen collection.

  • This test requires pathology review. Contact the Sendout Laboratory at 248-551-9045 before ordering this test.
  • Testing requires the ordering physician to complete forms for the independent clinical laboratory performing the testing.
  • This test will be billed to the patient's insurance. If not covered by insurance, the patient is responsible for the full cost of testing.
  • Specimens received without the appropriate forms and information will not be shipped.
  • Once approved, order test as a Miscellaneous Sendout (XMISC).

Specimen Collection Criteria

Collect: Two Lavender-top EDTA tubes, after obtaining necessary pathology approval. (Minimum Whole Blood: 3.0 mL adult, 1.0 mL infants)

Physician Office/Drawsite Specimen Preparation

Do not centrifuge. Maintain whole blood at room temperature (20-26°C or 68-78.8°F) prior to transport. Pathology review and all appropriate forms must be completed prior to specimen transport.

Preparation for Courier Transport

Transport: 8 mL whole blood with all appropriate forms and information, at room temperature (20-26°C or 68-78.8°F). (Min: 3.0 mL adult, 1.0 mL infants)

Rejection Criteria

  • Specimens received without prior Laboratory notification and review.
  • Frozen specimens.
  • Specimens not collected and processed as indicated.

Storage

Specimen Stability for Testing:

Room Temperature (20-26°C or 68-78.8°F): 7 days
Refrigerated (2-8°C or 36-46°F): 7 days
Frozen (-20°C/-4°F or below): Unacceptable

Specimen Storage in Department Prior to Disposal:

Specimen retention time is determined by the policy of the reference laboratory. Contact the Sendout Laboratory with any questions.

Laboratory

Sent to Prevention Genetics, Marshfield, WI.

Performed

Varies.
Results available in 2-3 weeks.

Reference Range

By report.

Test Methodology

Polymerase Chain Reaction (PCR).

Clinical Utility

  • This assay aids in the prenatal diagnosis and identification of mutations in individuals with clinical diagnosis of Achondroplasia, Hypochondroplasia, Thanatophoric Dysplasia Types I and II,  or Nonsyndromic Craniosynostosis.
  • Clinical findings for:
    • Achondroplasia: large head, bulging forehead, large calvarium, short, cupped ribs and rhizomelic shortening.
    • Hypochondroplasia: rhizomelic shortening, normal head to slight prominence of forehead. Nonsyndromic coronal craniosynostosis.
    • Thanatophoric Dysplasia Type I: severe shortening of limbs, small chest cavity, and fetal or neonatal demise.
    • Thanatophoric Dysplasia Type II: similar phenotype as TD1 with the presence of clover leaf skull.

CPT Code

81479.

Last Updated

08/24/2017

Microtainer® and Vacutainer® are registered trademarks of Becton, Dickinson and Company.
UroVysion® is a registered trademark of Abbott Laboratories. ThinPrep® is a registered trademark of Hologic, Incorporated.

This directory currently reflects information only for specimens collected and/or processed at the Farmington Hills, Grosse Pointe, Royal Oak, and Troy campuses.