ARUP's Laboratory Test Directory

Mucolipidosis, Type IV (MCOLN1) 2 Mutations : 0051448
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Patient History For Molecular Genetic Testing
  


Mnemonic: MCOLN1

Ordering Recommendation: Diagnostic testing for mucolipidosis type IV. Carrier screening for mucolipidosis type IV.
Methodology: Polymerase Chain Reaction/ASPE Bead Array
Performed: Tue, Thu
Reported: 7-10 days
Specimen Required: Collect: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation: Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature: Refrigerated.

Stability (collection to initiation of testing): Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval:
By report
Interpretive Data: Background information for Mucolipidosis, Type IV (MCOLN1) 2 Mutations:
Characteristics: Early onset of severe psychomotor delay, progressive visual impairment from corneal clouding and retinal degeneration. 15 percent 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.



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
CPT Code(s): 81290