Number of Panel Genes: 
18

Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by a normochromic macrocytic anemia, reticulocytopenia, and a normal marrow cellularity with a lack or absent of erythroid precursors. Most DBA patients develop hematologic complications during the first year of life. Approximately half of the patients have other findings including growth retardation, craniofacial, upper-limb, heart, and urogenital malformations.read more

Tests Available

18 Panel Genes: GATA1, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2
Next Generation Sequencing
$1,220
Test Code: 5288
Deletion / Duplication
$990
Test Code: 5289
Del / Dup not available for RPS17
NGS/Del Dup Comprehensive
$1,595
Test Code: 5290
Del / Dup not available for RPS17

Test Details

Technical Information
Panel Genes: 
GATA1, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2
Disease Groups: 
Hematological Disorders
Billing
Price: 
$1,220
CPT Codes: 
81405 x 1
81479 x 17
Ordering
SKU:
5288
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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