Targeted Familial Variant Analysis
Order Code: 4970 Get Requisition Form
Targeted genetic analysis is used to determine if a specific familial variant is present. Testing is only available for genes tested by Next Generation sequencing at Versiti Wisconsin, Inc., a sample from an affected relative must be provided a copy of the family member's lab report for the variant being tested.
Also Known As
- Single Exon Sequencing
EDTA Whole Blood, EDTA Bone Marrow, DNA, Buccal Swabs, Amniotic Fluid, Cultured Amniocytes, Direct or Cultured CVS
2-5 mL EDTA Whole Blood or Bone Marrow (lavendar top), 3-4 Buccal Swabs, >=1 ug DNA at >=50 ng/uL, 7-15 mL Amniotic Fluid, 5-10 mg CVS, 2-T25 flasks Cultured Amniocytes or CVS (2x10^6 minimum)
Minimum / Pediatric Volume
Fetal: Call Laboratory; Parental/Patient: 2 mL EDTA whole blood
Additional Sample Information
If original testing was not performed by Versiti Wisconsin, Inc. it is recommended that sample from an affected relative be provided as a positive control along with the patient sample. The control confirms the targeted variant and is not reported.
Room Temperature or Refrigerated
PCR amplification and bidirectional Sanger sequence analysis of the requested exon(s) are performed.
21 days, unless otherwise specified
New York State Approval
If performed by NGS: Yes; If performed by aCGH: No
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