#ExistInterpData>Background information for Mucolipidosis, Type IV (MCOLN1) 2 Mutations, Fetal:
Characteristics: Early onset of severe psychomotor delay, progressive visual impairment from corneal clouding and retinal degeneration. 15% of affected will have progressive neurological degeneration. Affected persons may learn to say a few words or walk independently.
Incidence: 1 in 63,000 Ashkenazi Jewish individuals; unknown in other ethnicities.
Inheritance: Autosomal recessive.
Cause: Deleterious MCOLN1 gene mutations.
Mutations Tested: del6.4kb and IVS3(-2)A>G.
Clinical Sensitivity: 95 percent in Ashkenazi Jewish individuals, unknown in other ethnicities.
Methodology: PCR and allele-specific primer extension by bead array with fluorescence detection.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Mutations other than del6.4kb and IVS3(-2)A>G will not be detected. Rare diagnostic errors may occur due to primer site mutations.
For quality assurance purposes, ARUP Laboratories will confirm the above result at no charge following delivery. Order Confirmation of Fetal Testing and include a copy of the original fetal report (or the mother's name and date of birth) with the test submission. Please contact an ARUP genetic counselor at (800) 242-2787 extension 2141 prior to specimen submission.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
See Compliance Statement C: www.aruplab.com/CS
Fetal Cell Contamination (FCC): 81265