Clinics and Departments

Laboratory Services

Lab Dept:

Anatomic Pathology

Test Name:

NOONAN SPECTRUM CHIP

General Information

Lab Order Codes:

NSPC

Synonyms:

Leopard Syndrome; Cardio-facio-cutaneous; Costello Syndrome; Noonan Syndrome

CPT Codes:

81400 x1 – Molecular Pathology, Level 1
81404 x1 – Molecular Pathology, Level 5
81405 x2 – Molecular Pathology, Level 6
81406 x6 – Molecular Patholgoy, Level 7
81479 x2 – Molecular Pathology Unlisted procedure

Test Includes:

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.

Logistics

Test Indications:

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.

Lab Testing Sections:

Anatomic Pathology - Sendouts

Referred to:

Harvard Medical School Partners Healthcare

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

Daily, 24 hours

Turnaround Time:

5 weeks

Special Instructions:

Please send completed Harvard requisition/consent forms to the lab with the patient or specimen.

Specimen

Specimen Type:

Whole blood

Container:

Lavender top (EDTA) tube

Draw Volume:

7 mL (Pediatric Minimum: 3-5 mL) blood

Processed Volume:

Same as Draw Volume

Collection:

Routine venipuncture

Special Processing:

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.

Patient Preparation:

None

Sample Rejection:

Frozen specimen; specimen too old; mislabeled or unlabeled specimens

Interpretive

Reference Range:

An interpretive report will be provided

Critical Values:

N/A

Limitations:

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.

Methodology:

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.

References:

Harvard Medical School Partners Healthcare Laboratory of Molecular Medicine Web Page March 2011

Updates:

3/21/2011: Test moved to direct to Harvard. Previously forwarded by Mayo.
2/7/2013: CPT update
1/21/2014: CPT update



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