Laboratory Test Guide

Beta Hemoglobin Sequencing, Relative

General Information

Lab Name

Beta Hemoglobin Seq, Relative

Lab Code

HBREL

Epic Name

BETA HEMOGLOBIN SEQ, RELATIVE

Description

This test can also be used to test for a single known mutation, such as the sickle-cell mutation. For further information about this test, see Beta Hemoglobin DNA Sequencing link below. For further information about this test, see Beta Hemoglobin DNA Sequencing [HBSEQ].

Synonyms

Globin, HBB, Hemoglobin C, Hemoglobinopathy, Hemoglobin S, Sickle Cell, Thalassemia intermedia, Thalassemia major

Components

Code	Name
HBRRES	Hb beta Results
HBRCI	Hb beta Clin Info
HBRINT	Hb beta Interpretation
HBRMTH	Hb beta Methods and Info

Interpretation

Method

DNA sequencing of both strands of the segment of the hemoglobin beta (HBB) gene that carries a specific mutation previously identified in a family member.

Reference Range

See individual components

Ordering & Collection

Specimen Type

Blood/Cultured amniocytes or chorionic villus cells/Extracted DNA from blood, chorionic villi, and amniocyte. Direct chorionic villi, amniocyte, or amniotic fluid testing require Genetics Director approval. Please call the lab at 206-598-7021

Collection

Acceptable:

Whole blood:5 mL lavender top (EDTA) tube or yellow (ACD) top tube or 2 mL microtainer lavender top tube
Extracted DNA from blood, chorionic villi, and amniocytes: 500 ng (concentration >10 ng/uL)
Cultured amniocytes/chorionic villi: MCC is required for testing fetal samples. See MCC OLTG.
Also acceptable, but requires the Genetics Director's approval and a backup culture. Direct chorionic villi and/or TISSUE: Send 20mg of tissue in a sterile tube or RPMI culture media

*NOTE: If a fetal sample (cultured amniocytes or chorionic villi) was received, add MCC to the order. Prenatal testing requires concomitant testing for maternal cell contamination (see Online Test Guide, MCC for ordering and specimen requirements). See Special Instructions.

Unacceptable: Heparin green top tubes, buccal swab

Forms & Requisitions

Genetics Requisition

Handling Instructions

SPS specimen handling:

Whole blood sample: store in the refrigerator

Cultured amniocytes/chorionic villi: store at room temperature. Call the Genetics lab upon receipt (206)598-7021.

Extracted DNA: store in the refrigerator

Quantity

requested: Entire specimen
minimum: Blood: 1 mL. If volume is less than 1mL, do not cancel. Send to Genetics lab. Confluent cultured cells: One (1) T25 flask. Extracted DNA: 250 ng

Processing

If fetal tissue (cultured amniocytes or chorionic villi) was received for prenatal testing, consultation with the laboratory is required. Please notify the Genetics lab about prenatal studies via email at geneticshelp@uw.edu or call 206-598-7021.

For clients outside of UW, please include the most recent CBC and Hb electrophoresis result/s (if available), and/or any relevant clinical history.

Performance

LIS Dept Code

Genetics (GEN)

Performing Location(s)

UW-MT	Genetics Attention: Genetics Lab Clinical lab, Room NW220 University of Washington Medical Center 1959 NE Pacific Street Seattle, WA 98195 Tel: 206-598–6429 M–F (7:30 AM–4:00 PM) Fax: 206-616-4584 Lab email: cgateam@uw.edu Tel (EXOME only): 206-543-0459	Faculty Jillian Buchan, PhD, FACMG Runjun Kumar, MD, PhD Regina Kwon, MD, MPH Christina Lockwood, PhD, DABCC, DABMGG Abbye McEwen, MD, PhD Colin Pritchard, MD, PhD Vera Paulson, MD, PhD Eric Konnick, MD, MS He Fang, PhD