Shwachman-Diamond Syndrome
Shwachman-Diamond Syndrome (SDS) is a recessively-inherited multisystem disorder that is also called Shwachman-Bodian-Diamond Syndrome.
PrintShwachman-Diamond Syndrome (SDS) is a recessively-inherited multisystem disorder that is also called Shwachman-Bodian-Diamond Syndrome.
Symptoms of Shwachman-Diamond Syndrome are exocrine pancreatic insufficiency, hematological abnormalities including bone marrow failure and malignancy, and skeletal defects due to metaphyseal dysostosis.
The Ambry Test: Shwachman-Diamond Syndrome is a full gene sequence analysis of exons 1-5 of the SBDS gene, plus at least 20 bases into the 5’ and 3’ ends of all the introns. Approximately 75% of SDS disease alleles result from gene conversion events that introduce mutated sequence from a pseudogene into the SBDS gene. The Ambry Test: Shwachman-Diamond Syndrome is designed to prevent unwanted amplification of the psuedogene. The detection rate in affected patients is ~78%. Approximately 90% of patients will test positive for at least one SBDS mutation.
Shwachman-Diamond Syndrome (SDS) is a recessively-inherited multisystem disorder occurring in approximately 1/75,000 births.1 This condition is also called Shwachman-Bodian-Diamond Syndrome and was formerly called congenital lipomatosis of the pancreas. Symptoms are exocrine pancreatic insufficiency, hematological abnormalities including bone marrow failure and malignancy, and skeletal defects due to metaphyseal dysostosis.
Diagnosis is often made in early childhood due to failure to thrive, abnormal stools, and recurrent infections. Rib cage abnormalities and short stature are common signs of irregular bone growth and maturation that characterize SDS. Hepatomegaly and elevated liver enzymes are found in many very young patients, but these tend to resolve in later childhood and approximately half of patients become pancreatic sufficient over time.1 Neutropenia, thrombocytopenia or anemia are present in nearly all patients and at least one quarter of patients develop aplastic anemia, myelodysplastic syndrome, or leukemia.2
Treatments for SDS can include pancreatic enzyme replacement, surgery to improve skeletal function, routine blood and bone marrow analyses for monitoring, blood transfusions, chemotherapy, and hematopoietic stem cell transplant.
Approximately 75% of SDS alleles result from gene conversion events that introduce mutated sequence from a pseudogene into the SBDS gene.3 Genotype does not appear to correlate with phenotype for presence or severity of symptoms.1-3
- Diagnostic confirmation in patients suspected to have SDS
- Mutation identification in known affected patients
- Familial mutation testing in relatives to determine carrier status
- Prenatal diagnosis for known carrier couples
The Ambry Test: Shwachman-Diamond Syndrome is a full gene sequence analysis performed by PCR-based doublestranded automated sequencing in the sense and antisense directions for exons 1-5 of the SBDS gene, plus at least 20 bases into the 5’ and 3’ ends of all the introns. The assay design prevents unwanted amplification of the pseudogene. Specific mutation analysis for individual SBDS mutations known to be in the family is also available.
The Ambry Test: Shwachman-Diamond Syndrome detects ~95% of the described SBDS mutations. The detectionrate in affected patients is ~78%. 3-5 Approximately 90% of patients will test positive for at least one SBDS mutation.1
BLOOD: Collect 3-5 cc from adult or 2 cc minimum from child into EDTA purple-top tube (first choice) or ACD yellow-top tube (second choice). Store at room temperature or refrigerate. Ship at room temperature.
SALIVA: Collect 2 ml into Oragene™ DNA Self-Collection container. Store and ship at room temperature.
***For patients who have had a bone marrow transplant, please send whole blood and saliva together.***
DNA: Send 20 µg in TE at 50-100 ng/µl. Store frozen and ship on ice or dry ice.
PRENATAL: Prenatal testing is available. Please call an Ambry Genetic Counselor to discuss your case.
| Test Code | Technique | CPT Codes |
|---|---|---|
| 1440 | SBDS Gene Sequence Analysis | 83891x1, 83894x5, 83898x4, 83904x10, 83909x10, 83912x1 |
| Technique | Days |
|---|---|
| SBDS Gene Sequence Analysis | 10-21 |
1 Dror Y. Pediatr Blood Cancer. 2005;45:892-901.
2 Kawakami T et al. Tohoku J Exp Med. 2005;206:253-259.
3 Kuijpers TW et al. Blood. 2005;106:356-361.
4 Boocock GRB et al. Nat Genet. 2003;33:97-101.
5 Woloszynek JR et al. Blood. 2004;104:3588-3590.