Clinics and Departments

Laboratory Services

Lab Dept:

Anatomic Pathology

Test Name:

DIAMOND BLACKFAN ANEMIA (RPS19) SEQUENCING

General Information

Lab Order Codes:

RPS19 (Blood or Buccal Swab)

Synonyms:

Blackfan-Diamond Anemia Syndrome; Aase-Smith Syndrome II; Aase Syndrome; Pure Hereditary Red Cell Aplasia

CPT Codes:

81405 – Molecular Pathology, Level 6

Test Includes:

Analysis is performed by bi-directional sequencing of the coding regions and splice sites of exons 1-6 of the RPS19 gene on chromosome 19q12.2. Mutations found in the first of a family to be tested and is confirmed by repeat analysis using sequencing, restriction fragment analysis, or another appropriate method.

Logistics

Test Indications:

Diamond-Blackfan anemia usually presents with hypoplastic anemia in early infancy. Hematologic examination shows macrocytosis and a decrease in erythroid precursers. About 1/3 of affected children have congenital anomalies including malformations of the thumb and upper limbs, cardiomegaly, and growth retardation. Affected individuals are at risk to develop leukemia.

Reasons for referral:
1. Confirmation of clinical diagnosis
2. Genetic counseling
3. Identification of very mild or clinically silent cases.
4. Confirmation that a potential hematopoietic stem cell transplant donor is not affected.

Lab Testing Sections:

Anatomic Pathology - Sendouts

Referred to:

GeneDx, Inc. (GDX Test: 1061)

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

Daily, 24 hours (Preferred draws are Sunday - Thursday as specimens can only be received at the reference lab Monday - Friday. Specimens collected Friday or Saturday will be held for shipment on Monday.)

Turnaround Time:

6 - 8 weeks for new patients

Special Instructions:

A GeneDx signed request form must be sent with any patient or specimen to the laboratory.

RSP19 can be tested using cells obtained by swabbing the buccal mucosa (inside of cheek). Buccal brushes are not accepted on children under 6 months of age. Buccal swab collection kits are available from GeneDx (ph. 301-519-2100).

Specimen

Specimen Type:

Whole blood

Buccal cell swab (preferred specimen)

Container:

Blood: Lavender top (EDTA) tube

Buccal Smear: Cytobrush Plus Cell CollectorŽ kit

Draw Volume:

1 - 5 mL blood

2 swabs from the Cytobrush Plus Cell CollectorŽ kit

Processed Volume:

Same as Draw Volume

Collection:

Routine venipuncture for blood specimens, invert gently to mix

Buccal swab kit for buccal swabs:

Buccal Cell Collection procedure:
1. Remove a swab from the Buccal swab kit touching only the “stick” end.
2. Do Not rinse mouth before starting. Have the individual open his/her mouth. Twirl the swab on the inner cheek for 30 seconds. Do Not scrape so hard that the cheek bleeds.
3. Place the swab end in the labeled tube. Cut the “stick” with scissors at the level of the top of the tube. Replace cap and close completely.
4. Repeat the process with another swab on the opposite cheek.
5. Send the kit to the lab for processing and mailing.

Special Processing:

Lab Staff: Send whole blood in original collection container labeled with patient name, date of birth and medical record number, including signed consent form and requisition, with a cool pack in warm weather, via overnight or second-day courier so that the sample will arrive at GeneDx, Inc. on a weekday (Monday through Friday). Samples drawn on Friday or Saturday should be held at refrigerated temperatures for shipment on Sunday. Do not freeze.
Note:
Specimens may be stored at refrigerated temperatures for up to 7 days prior to shipping.

Mail the Cytobrush Plus Cell CollectorŽ kit, including signed consent form and requisition, by regular mail to GeneDx in the included envelope.

Patient Preparation:

For buccal cell collection, Do Not have the patient rinse his/her mouth.

Sample Rejection:

Unrefrigerated specimens older than 48 hours; clotted or hemolyzed for blood; frozen specimens; mislabeled or unlabeled specimens

Interpretive

Reference Range:

No mutations detected

Critical Values:

N/A

Limitations:

Buccal brushes cannot be accepted on children under 6 months of age.

Methodology:

Bi-directional sequence analysis

References:

GeneDx, Inc. March 2012
(301) 519-2100 Fax (301) 519-2892

Updates:

2/5/2013: CPT update
3/26/2014: CPT update



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