Currarino Syndrome via the MNX1 Gene
Use
This test is designed for individuals with features suggestive of Currarino syndrome, individuals without specific variant information of a confirmed case in the family, and individuals who have a family member with presumed Currarino syndrome but no prior genetic testing. Currarino syndrome is characterized by a spectrum of congenital anomalies, often involving sacral agenesis, anorectal malformations, and pre-sacral masses, which can significantly impact the quality of life. Genetic testing can provide a definitive diagnosis and facilitate appropriate management and family planning.
Special Instructions
Test can be ordered through the PreventionGenetics portal or by submitting a test requisition form via fax. Patients may also opt for targeted family testing or additional genetic testing following an initial report. The test uses either the Exome or Genome platform for analysis, and expedited STAT testing is available for an additional charge.
Limitations
The test is developed and validated by PreventionGenetics under CLIA and CAP regulations but has not been FDA-cleared or approved. It may not detect all genetic variants associated with Currarino syndrome. Technical limitations include the inability to detect certain types of mutations, such as trinucleotide repeat expansions, within the MNX1 gene. Variants of uncertain significance may not be interpretable without additional family studies.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided