Targeted Familial Variant Analysis

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. USA test status: This is a laboratory developed test (LDT). 

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)

Fetal: Call Laboratory; Parental/Patient: 2 mL EDTA whole blood

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.

PCR amplification and bidirectional Sanger sequence analysis of the requested exon(s) are performed.

21 days, unless otherwise specified

If performed by NGS: Yes; If performed by aCGH: No

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