Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

RPL11 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
RPL11
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:
362
Turnaround Time:
6-8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots

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. 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
  2. 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)
  3. Draptchinskaia N, 1999, The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Gen 21:169
  4. 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

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