Multiple Sulphatase Deficiency

Test Description:

Multiple sulfatase deficiency (MSD) is a rare lysosomal storage disease that is caused by mutations in the SUMF1 gene and is inherited in an autosomal recessive manner. Symptoms usually appear at the age of 1 or 2 years, but may begin in the neonatal period. These symptoms include leukodystrophy, seizures, developmental delay, and slow growth. Skeletal defects, coarse facial features, and enlarged organs and hearing loss are often present. While MSD patients of Ashkenazi Jewish descent have not been reported in the literature, identification of Ashkenazi Jewish MSD patients in our facility led to the identification of p.S155P as a founder mutation, with a carrier frequency of 1 in 279. Testing for this mutation is expected to identify over 95% of SUMF1 mutations in the Ashkenazi Jewish population.

Full gene sequencing is available for reproductive partners of known mutation carriers. Prenatal diagnosis is also available. Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.


1. Dierks T, Schmidt B, Borissenko LV, Peng J, Preusser A, Mariappan M, von Figura K. Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. Cell. 2003 May 16113(4):435-44.

Specimen Requirements


Two 5-10 mL tubes of anticoagulated blood in EDTA (lavender top) or two 5-10 mL tubes of anticoagulated blood in ACD (yellow top).


Chorionic Villi: 5-10 mg in conical tube with sterile saline OR transport media
Amniotic Fluid: 10 ml in conical tube
Cultured Cells: two confluent T-25 flasks

Additionally, please send:

5-10 ml maternal blood in EDTA (lavender top) required to perform MCC studies on all prenatal samples and in case maternal confirmation studies are necessary
5-10 ml paternal blood in EDTA (lavender top) in case paternal confirmation studies are necessary

Ordering Information


Ship at room temperature

Turnaround Time

: 10 – 14 days

CPT Codes:


Forms and Brochures

Carrier Screening Requisition and Consent [PDF]
Expanded Ashkenazi Jewish Carrier Screening Brochure [PDF]
Ashkenazi Jewish Carrier Screening Panel