25 days (In some cases, additional time may be required for confirmatory or reflex tests.)
Next Generation Sequencing: Identifies genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).
Special Instructions: In cases in which there is a known variant documented in the family, the physician may prefer to order Targeted Variant Analysis, test code 482552. Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.
Accredited Laboratory Partner
Contact Technical Support
Sequencing of FBN1 gene to diagnose Marfan syndrome and related connective tissue disorders.
Whole Blood or PurFlock buccal swab kit or oragene Dx 500 saliva kit
4 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit
Lavender-top (EDTA) or Yellow-top (ACD-A) tube or PurFlock buccal swab kit or Oragene Dx 500 saliva collection kit
No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.
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.
| Temperature | Period |
|---|---|
| Room temperature | 14 days |
| Refrigerated | 30 days |