Test code: 1001738

Medical Whole Genome: Clinical Whole Genome, Additional Family Member
Test Code: 1001738
Turnaround time: 6 to 8 weeks

What is the Medical Whole Genome Analysis test ?
CEN4GEN uses a molecular genomic-based platform to sequence the complete nuclear and mitochondrial genomes, as part of a comprehensive diagnostic, carrier, predisposition risk and pharmacogenomic screen.

Can data be re-analyzed ?
Yes, upon request.

What options are available for Medical Whole Genome Analysis testing?
• Medical Whole Genome: Clinical Whole Genome Sequencing, Family Trios (Test code: 1007785)
• Medical Whole Genome: Clinical Whole Genome Sequencing, Proband Only (Test code: 1004791)
• Medical Whole Genome: Clinical Whole Genome Sequencing, Additional Family Member (Test code: 1001738)
• Medical Whole Genome: Clinical Whole Genome, interpretation only (Test code: 1006668)
• Medical Whole Genome: Clinical Whole Genome re-analysis (Test code: 1006667)
• Medical Exome Array: Deletion/Duplication Analysis (Test code: 3172)

INDICATION
This test is indicated for:

  • Comprehensive carrier screening /Family planning
    • Individuals or couples seeking to assess reproductive risk for a variety of common genetic medical conditions
    • Individuals or couples of high-risk ethnic groups or backgrounds
  • Comprehensive diagnostic screening of genetic medical conditions, especially when there is a suspicion of a genetic etiology
  • Predisposition screening of genetic medical conditions
  • Pharmacogenomic screening

DETECTION
Unknown

SPECIMEN REQUIREMENTS

Type: Whole Blood
Specimen Requirements:
In EDTA (purple top) or ACD (yellow top) tube: 5-10 ml for all ages

Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.

SPECIAL INSTRUCTIONS
Please submit medical records or clinic summary notes, and a signed consent form when ordering the medical whole genome testing. Testing will not be initiated until these documents are received.