GeneSeq® Cardio: Noonan Syndrome/RASopathies Panel
Also known as: Cardiofaciocutaneous syndrome, Costello syndrome, LEOPARD syndrome
Use
This test is used for diagnostic testing for Noonan syndrome and other RASopathies, including LEOPARD syndrome, Costello syndrome and cardiofaciocutaneous syndrome. It also is used for presymptomatic testing for family members.
Special Instructions
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. In cases where there is a known variant documented within the family, the physician may prefer to order GeneSeq® Cardio Targeted Variant Analysis [485208].
Limitations
Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions. Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples, or erroneous representation of family relationships.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 48018-6
- 48018-6
- 42784-9
- 31208-2
- 89993-0
- 42349-1
- 48003-8
- 53039-4
- 8262-8
- 62385-0
- 55752-0
- 8251-1
- 49549-9
- 75608-0
- 72486-4
- 51969-4
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
8.5 mL
Minimum Volume
3 mL
Container
Yellow-top (ACD-A) tube or lavender-top (EDTA) tube
Collection Instructions
Standard phlebotomy; follow PurFlock buccal swab kit or Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Patient Preparation
Do not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |