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SBDS Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
SBDS
Disorders:
Clinical Utility:
  • 1. Confirmation of a clinical diagnosis
  • 2. Carrier testing in relatives
  • 3. Confirmation that a potential hematopoietic stem cell transplant donor is not affected
  • 4. Prenatal diagnosis in at-risk pregnancies
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
109
Turnaround Time:
4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots, Buccal Brushes

BILLING

CPT Codes:
81479x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
* For ICD9 to ICD10 conversion please follow this link https://www.aapc.com/icd-10/codes/
ICD-9 Codes:
  • 284.8: Other specified aplastic anemias
  • 208: Acute [0-2] Acute leukemia NOS, Blast cell leukemia, Stem cell leukemia
  • 783.43: Short stature, Growth failure, Growth retardation, Lack of growth, Physical retardation
  • 577.9: Unspecified disease of pancreas
  • 288: Neutropenia Decreased, Absolute Neutrophil Count (ANC); Use additional code for any associated: fever (780.61), mucositis (478.11, 528.00-528.09, 538, 616.81) (776.7)
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Boocock, G., et al, Mutations in SBDS are associated with Shwachman-Diamond syndrome, 2003, Nature Genetics 33:97-101
  2. Kuijpers, T, et al., Hematologic abnormalities in Shwachman-Diamond syndrome: lack of genotype-phenotype relationship, 2005, Blood 106:356-361
  3. Costa E., et al, Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome, 2003, Blood Cells Mol Dis 29:96

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