Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and  will resume our normal work schedule on Saturday, November 29, 2014.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

RPL5 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
RPL5
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Identification of very mild or clinically silent cases
  • Confirmation that a potential hematopoietic stem cell transplant donor is not affected
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
361
Turnaround Time:
6-8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 284.01: Constitutional red blood cell aplasia, Blackfan-Diamond syndrome, Familial hypoplastic anemia
  • 284: Constitutional aplastic anemia
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Cmejla R, 2009, Indentification of mutations in the Ribosomal Protein L5 and Ribosomal Protein L11 Genes in Czech patients with Diamond-Blackfan anemia, Hum Mut 30321-327
  2. Gazda H 2008, Ribosomal Protein L5 and L11 Mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients, Am J Hum Gen 83:1-12
  3. Quarello P et al, 2008, Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RSP19 deficiency, Haematologica 93:1748 (letter)
  4. Draptchinskaia N, 1999, The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Gen 21:169

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