Hereditary Hemorrhagic Telangiectasia Panel

This panel is designed for the detection of germline variants in 6 genes known to cause hereditary hemorrhagic telangiectasia:  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

Genetic Test

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

3-5 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)

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

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

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)

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

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