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Lab Dept:
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Anatomic Pathology
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Test Name:
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NOONAN SPECTRUM CHIP
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General Information
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Lab Order Codes:
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NSPC
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Synonyms:
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Leopard Syndrome; Cardio-facio-cutaneous; Costello Syndrome; Noonan Syndrome
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CPT Codes:
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81479 – Molecular Pathology Unlisted procedure
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Test Includes:
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DNA sequencing for all ten genes that have been associated with Noonan Spectrum disorders including: PTPN11, SOS1, RAF1, KRAS, NRAS, BRAF, MEK1, MEK2, HRAS, SHOC2.
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Logistics
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Test Indications:
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Molecular diagnostics can help distinguish between the different Noonan spectrum disorders in individuals who have clinical features associated with the syndromes. Common features of these disorders are facial anomalies, heart defects, growth retardation, skeletal anomalies, and variable degrees of mental retardation or developmental delay. This comprehensive approach simultaneously tests all genes associated with the disorders at one time. It provides complete testing while eliminating the need to determine which of these genes to test based on an individual's clinical features, reducing the likelihood of missed molecular diagnosis.
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Lab Testing Sections:
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Anatomic Pathology - Sendouts
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Referred to:
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Harvard Medical School Partners Healthcare
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Phone Numbers:
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MIN Lab: 612-813-6280
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STP Lab: 651-220-6550
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Test Availability:
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Daily, 24 hours
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Turnaround Time:
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5 weeks
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Special Instructions:
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Please send completed Harvard requisition/consent forms to the lab with the patient or specimen.
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Specimen
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Specimen Type:
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Whole blood
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Container:
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Lavender top (EDTA) tube
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Draw Volume:
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7 mL (Pediatric Minimum: 3-5 mL) blood
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Processed Volume:
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Same as Draw Volume
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Collection:
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Routine venipuncture
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Special Processing:
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Lab Staff: Do Not Centrifuge. Store refrigerated for up to 7 days. Ship at ambient temperature overnight with a cool pack in warm weather. Include a signed consent form and requisition. The Laboratory for Molecular Medicine accepts samples Monday-Friday. Please keep blood samples drawn on Fridays, weekends, and holidays refrigerated and ship the next business day.
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Patient Preparation:
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None
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Sample Rejection:
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Frozen specimen; specimen too old; mislabeled or unlabeled specimens
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Interpretive
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Reference Range:
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An interpretive report will be provided
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Critical Values:
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N/A
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Limitations:
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A negative test result does not rule out a diagnosis of Noonan, Leopard, Cardio-facio-cutaneous or Costello Syndrome. Additional genes that have not yet been identified may also be associated with these syndromes.
This test does not detect mutations in non-coding regions that could affect gene expression or deletions encompassing a large portion of the gene.
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Methodology:
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The Noonan Spectrum Chip test is performed by a combination of oglionucleotide hybridization-based DNA sequencing of the coding regions and splice sites of PTPN11, SOS1, RAF1, KRAS, NRAS, BRAF, MEK1, MEK2, HRAS and SHOC2 (exon 2) using a custom Affymetrix GeneChip design as well as dideoxy-based DNA sequencing.
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References:
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Harvard Medical School Partners Healthcare Laboratory of Molecular Medicine Web Page March 2011
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Updates:
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3/21/2011: Test moved to direct send to Harvard. Previously forwarded by Mayo.
2/7/2013: CPT update
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