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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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