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Shwachman-Diamond Syndrome

Alternate test name

Gene name / Alternate gene name
  • SBDS
Ribosome maturation protein, Shwachman-Bodian-Diamond Syndrome
Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment
Expected turn-around time
Prenatal: 2 weeks Pregnancy/STAT: 2-3 weeks Routine: 4-6 weeks
Specimen type

Blood; gDNA.

For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).

Specimen requirements
  • Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate); 
  • DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Storage and transportation

Room Temperature

For details about specimen requirements, please refer to: Specimen Type and Requirements

Special requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab:
Email Cytogenetics:
Background and clinical significance

Shwachman-Diamond Syndrome (SDS) is an autosomal recessive disorder with an incidence of 1 in 50,000 births. SDS affects many organs in the body and the symptoms may vary from individual to individual. The primary features of SDS include: bone marrow problems (leading to inadequate production of some types of blood cells), a defect in the pancreas (leading to difficulties in digesting food), skeletal abnormalities, and short stature. Other, secondary, features may affect some but not all people with SDS. People with SDS are at risk for serious, sometimes fatal, complications such as severe infections, bone marrow failure and acute myelogenous leukemia.

The SBDS gene at 7q11 has recently been found to be the causative gene for SDS A pseudogene, SBDS-P, exists within a distally duplicated region and shares 97% nucleotide sequence identity with the SBDS gene. A majority of SDS patients have mutations resulting from recombination and gene conversion between the SBDS and SBDS-P genes. The two common conversion mutations account for 75% of all SDS disease alleles.

The disease is present when a child receives two copies of a defective gene, one from each parent. Any person with one copy of the defective SDS gene is a SDS carrier. Carriers do not have, and will never develop, SDS. However, if two carriers wish to have children, there is a one in four chance (25%) that their baby will be born with SDS. There is a three in four chance (75%) that their baby will not have SDS.

See related information sheet: Shwachman-Diamond Syndrome

Disease condition

Shwachman-Diamond Syndrome

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