4970

Targeted Familial Variant Analysis

Order Code: 4970 Get Requisition Form
Test Information Icon
Test Information
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 Icon
Also Known As
  • ABCG5
  • ABCG8
  • ACTB
  • ACTN1
  • ADAMTS13
  • ANKRD26
  • ANO6
  • AP3B1
  • AP3D1
  • ARPC1B
  • BLOC1S3
  • BLOC1S6
  • CDC42
  • CSF3R
  • CXCR4
  • CYCS
  • DIAPH1
  • DTNBP1
  • ELANE
  • ETV6
  • F10
  • F11
  • F13A1
  • F13B
  • F2
  • F5
  • F7
  • F8
  • F9
  • FERMT3
  • FGA
  • FGB
  • FGG
  • FLI1
  • FLNA
  • FYB1
  • G6PC3
  • GATA1
  • GATA2
  • GFI1
  • GFI1B
  • GGCX
  • GNE
  • GP1BA
  • GP1BB
  • GP6
  • GP9
  • HAX1
  • HOXA11
  • HPS1
  • HPS3
  • HPS4
  • HPS5
  • HPS6
  • HRG
  • ITGA2B
  • ITGB3
  • JAGN1
  • KDSR
  • KNG1
  • LAMTOR2
  • LMAN1
  • LYST
  • MCFD2
  • MECOM
  • MPIG6B
  • MPL
  • MYH9
  • NBEA
  • NBEAL2
  • P2RY12
  • PLA2G4A
  • PLG
  • PRKACG
  • PROC
  • PROS1
  • RAB24A
  • RAC2
  • RASGRP2
  • RBM8A
  • RNU4ATAC
  • RUNX1
  • SBDS
  • SERPINA1
  • SERPINC1
  • SERPIND1
  • SERPINE1
  • SERPINF2
  • Single Exon Sequencing
  • SLC37A4
  • SLFN14
  • SRC
  • STIM1
  • STXBP2
  • TAZ
  • TBXA2R
  • TBXAS1
  • THBD
  • THPO
  • TUBB1
  • USB1
  • VIPAS39
  • VKORC1
  • VPS13B
  • VPS33B
  • VPS45
  • VWF
  • WAS
  • WIPF1
Test Type Icon
Test Type
Genetic Test
Sample Notes Icon
Sample Notes
EDTA Whole Blood, EDTA Bone Marrow, DNA, Buccal Swabs, Amniotic Fluid, Cultured Amniocytes, Direct or Cultured CVS
Requested Volume Icon
Requested Volume
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 Icon
Minimum / Pediatric Volume
Fetal: Call Laboratory; Parental/Patient: 2 mL EDTA whole blood
Additional Sample Information Icon
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.
Shipping Information Icon
Shipping Information
Room Temperature or Refrigerated
Method Icon
Method
PCR amplification and bidirectional Sanger sequence analysis of the requested exon(s) are performed.
Turnaround Time Icon
Turnaround Time
21 days, unless otherwise specified
New York State Approval Icon
New York State Approval
No
DEX Z-Code™ Icon
DEX Z-Code™
No
 
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Research investigators, postdoctoral fellows and laboratory staff at Versiti Blood Research Institute and Diagnostic Laboratories.
 
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Requisitions
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