Test code: 700128

Mucopolysaccharidosis Is (Scheie syndrome): Full gene sequencing (Rapid testing)
Test Code: 700128
Turnaround time: 4 to 8 days

CONDITION
Mucopolysaccharidosis Is (Scheie syndrome)

INDICATION
This test is indicated for:

  • Individuals with a clinical or suspected diagnosis of Mucopolysaccharidosis Is (Scheie syndrome)
  • Family members of an affected individual at risk to be carriers

GENES

IDUA

METHODOLOGY

Next Generation Sequencing: In-solution hybridization of the regions encompassing full exonic gene sequences is performed on the patient’s genomic DNA. Direct sequencing of the captured regions is performed using next generation sequencing (NGS). The patient’s gene sequences are then compared to a standard reference sequence. All sequence variants are evaluated using current scientific data to identify pathogenic, likely pathogenic variants, variants of unknown significance (VOUS) and carrier status. Benign and likely benign variants are identified and classified using the latest published, scientific data are not listed in the report. Variants of unknown significance (VOUS) that are either synonymous or outside coding regions are classified as likely benign.

DETECTION

Next Generation Sequencing: Clinical Sensitivity: Pathogenic variants in regions other than the targeted area, including the promoter region, some mutations in the introns and other regulatory element mutations, cannot be detected by this analysis. Large deletions/duplications will not be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient’s clinical/biochemical phenotype.

Analytical Sensitivity: ~99%.

SPECIMEN REQUIREMENTS

Submit only 1 of the following specimen types

Type: Dried Blood spots
Specimen Requirements: 5 saturated dried blood spots on filter paper
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.

Type: Whole Blood
Specimen Requirements:
In EDTA (purple top) or ACD (yellow top) tube: Infants (2 years): 3-5 ml
Older Children & Adults: 5 ml
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.

Type: Saliva Specimen
Requirements: Oragene™ kit (available from CEN4GEN)
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.