Beta Hemoglobin Sequencing, Relative

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General Information

Lab Name
Beta Hemoglobin Seq, Relative
Lab Code
HBREL
Epic Ordering
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].

Forms & Requisitions

Genetics Requisition

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

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:

  1. Whole blood:5 mL lavender top (EDTA) tube or yellow (ACD) top tube or 2 mL microtainer lavender top tube

  2. Extracted DNA from blood, chorionic villi, and amniocytes: 500 ng (concentration >10 ng/uL)

  3. Cultured amniocytes/chorionic villi: MCC is required for testing fetal samples. See MCC OLTG.

  4. 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

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
Frequency
Performed weekly. Results within 2 weeks.
Available STAT?
No

Billing & Coding

CPT codes
81362
LOINC
21691-1
Interfaced Order Code
UOW2176