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Malignant Hyperthermia Susceptibility Testing (RYR1 Gene Screening)

RYR1 Gene Screening, Malignant Hyperthermal Panel

Test Codes

Prevention: 10059

Department

Send Outs

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 Send Outs 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 Send Out (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/Draw 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: 5.0 mL whole blood with all appropriate forms and information, at room temperature (20-26°C or 68-78.8°F). (Minimum: 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.

In-Lab Processing

Do not centrifuge. Maintain whole blood at room temperature (20-26°C or 68-78.8°F) prior to transport.

Transport: 5.0 mL whole blood with all appropriate forms and information, at room temperature (20-26°C or 68-78.8°F). (Minimum: 3.0 mL adult, 1.0 mL infants)

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 Send Outs 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

Exome sequencing with CNV Detection.

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 Codes

81479 x 5, 81408.

Contacts

Last Updated

11/3/2023