Also Known as
aCGH, CNV, del, del/dup, deletion, duplication, F10, F11, F13A1, F13B, F2, F5, F7, F8, F9, FGA, FGB, FGG, GGCX, LMAN1, MCFD2, SERPINA1, SERPINE1, SERPINF2, VKORC1, VWF
Test Information
This panel is designed for the detection of germline variants in 19 genes and one targeted variant known to cause coagulation disorders. It can be ordered as: Next Generation Sequencing (NGS) only; NGS with reflex to Array Comparative Genomic Hybridization (aCGH); NGS with concurrent aCGH (both testing methodologies performed simultaneously); aCGH only
Additional Test Information
Sample Requirements
EDTA Whole Blood, EDTA Bone Marrow, DNA, Buccal Swabs, Amniotic Fluid, Cultured Amniocytes, Direct or Cultured CVS, ACDA Whole Blood, ACDB Whole Blood, Na Heparin Whole Blood
Shipping Information
Room Temperature or Refrigerated
Requested Volume
2-5 mL EDTA Whole Blood or Bone Marrow (lavender 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
Method
NGS: Capture hybridization and Next Generation Sequencing with supplementary PCR and bi-directional Sanger sequencing for quality and coverage; aCGH: CNV analysis of specific genes by high density gene-focused array Comparative Genomic Hybridization
Turnaround Time
"NGS only, aCGH only, or NGS and aCGH concurrently: 21 days
NGS reflex to aCGH: 21 days (if NGS only, aCGH not needed) or 42 days (with reflex to aCGH)"