This test is not orderable.

Prenatal HBB Full Gene Sequencing Build info

Synonyms

  • B-THALASSEMIA; HBB PRENATAL TEST (FULL GENE SEQUENCING)
  • HBBPRENATAL
  • B-THALASSEMIA
  • BETA GLOBIN
  • LAB4187

Procedure Name

B-THALASSEMIA; HBB PRENATAL TEST (FULL GENE SEQUENCING)

Procedure Master Number

LAB4187

Procedure ID

192047

Clinical Info

Use for prenatal analysis. Can confirm a clinical diagnosis of B-thalassemia, detect carriers, and help to establish a prognosis.

Specimen Sources

 Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous Placenta

Specimen Types

 Amniotic Fluid Chorionic Villus

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.

Specimen Volume

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

Only Orderable at Locations:

 Orderable Everywhere

Results
Component Name Base Name Common Name External Name
ROUTING ROUTING ROUTING Routing

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.

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