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Multiple Sulfatase Deficiency / Mucosulfatidosis via the SUMF1 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
SUMF1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7837SUMF181479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Jana Paderova, PhD

Clinical Features and Genetics

Clinical Features

Multiple sulfatase deficiency (MSD, OMIM 272200) is a rare lysosomal storage disorder due to simultaneous deficiency of all known sulfatases, as the result of defective posttranslational modification. MSD has been previously referred to as MSD-MLD to convey two points: (1) there is a multiple sulfatase deficiency and (2) the salient clinical and pathological presentation is that of metachromatic leukodystrophy (Austin, Arch Neurol 28:258-264, 1973). MSD is a severe multi systemic disease characterized by an extensive clinical and biochemical heterogeneity. Features include facial dysmorphism, short neck, skeletal deformities in the form of flared ribs and either a prominent or depressed sternum, dry and scaly skin (ichthyosis), hepatosplenomegaly, retinal atrophy, and hearing loss (Austin, 1973). Motor weakness and psychomotor delay occur in infancy, with death in a vegetative state before ten years of age. Two groups of patients with MSD can be distinguished according to the residual activities of sulfatases. Group I is characterized by a severe deficiency in all sulfatases, while Group II has half to normal activities of arylsulfatase B and up to half normal activities of the other sulfatases (Steckel et al. Eur J Biochem 151:147-252, 1985).


MSD is inherited with an autosomal recessive manner; it is caused by variants in the SUMF1 gene (Dierks et al. Cell 113:435-444, 2003; Cosma et al. Cell 113:445-456, 2003). To date, about 30 SUMF1 variants have been reported. They are distributed along the entire coding region of the gene and occurred in patients from various ethnic groups. The majority of reported variants have been missense, although nonsense, splicing, and small deletion variants have also been reported (see for example Yis et al. Brain Dev 30:374-377, 2008). One founder variant (p.Arg345Cys) was identified in a small town in Sicily (Cosma et al, 2003).The SUMF1 gene encodes the formylglycine-generating enzyme (FGE). In sulfatases, FGE post-translationally converts a cysteine residue to formylglycine, which is part of the catalytic site and essential for sulfatase activity.

Clinical Sensitivity - Sequencing with CNV PG-Select

Currently unknown.

Testing Strategy

This test provides full coverage of all coding exons of the SUMF1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with clinical and biochemical features suggestive of MSD and their close biological relatives. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SUMF1.


Official Gene Symbol OMIM ID
SUMF1 607939
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Multiple Sulfatase Deficiency AR 272200


  • Austin, J. H. (1973). "Studies in metachromatic leukodystrophy. XII. Multiple sulfatase deficiency." Arch Neurol 28(4): 258-64. PubMed ID: 4265903
  • Cosma, M. P., et.al. (2003). "The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases." Cell 113(4): 445-56. PubMed ID: 12757706
  • Dierks, T., et.al. (2003). "Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme." Cell 113(4): 435-44. PubMed ID: 12757705
  • Steckel, F., et.al. (1985). "Multiple sulfatase deficiency: degradation of arylsulfatase A and B after endocytosis in fibroblasts." Eur J Biochem 151(1): 147-52. PubMed ID: 2863139
  • Yis, U., et.al. (2008). "Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation." Brain Dev 30(5): 374-7. PubMed ID: 18509892


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

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View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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