B-Thalassemia; HBB Prenatal Test (Full Gene Sequencing) HBBPrenatal

Synonyms	HBB
Allscripts (AEHR) Order Name	B-Thalassemia; HBB Prenatal Test (Full Gene Sequencing)
Sunrise Clinical Manager (SCM) Order Name	B-Thalassemia; HBB Prenatal Test (Full Gene Seq
EPIC Order Name	Prenatal HBB Full Gene Sequencing
Clinical Info	Use for prenatal analysis. Can confirm a clinical diagnosis of B-thalassemia, detect carriers, and help to establish a prognosis.
Specimen Type	CVS, Amnio
Specimen Volume	10 – 15 mL amniotic fluid (10 mL min) or 20 mg CVS ( 10mg min) AND 3 mL Lavender top tube whole blood.
Container	Sterile Container AND Lavender Top tube ( for parental samples)
Collection Instructions	Container/Tube Sterile Container AND Lavender Top tube ( for parental samples)Specimen 10 – 15 mL amniotic fluid (10 mL min) or 20 mg CVS ( 10mg min) AND 3 mL Lavender top tube whole blood.
Transport Instructions	Room Temperature
Specimen Stability
Methodology	DNA Sequencing
Days Performed	TAT 13-16 Days
Performing Laboratory	LabCorp
CPT	31834 LOINC Code: 21689-5
PDM	245607
Result Interpretation Normal equals reference sequencing or variants that are known or predicted to be benign; Abnormal equals all other variants. Limitations This method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; deep intronic variants; it may be affected by allele-dropout; it may not allow determination of the exact numbers of T/A or microsatellite repeats; and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.
Forms