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Mucolipidosis type IV mutation detection-13565

3/20/2023: This test order is currently unavailable. To order a referred alternate, place a MSO order for LabCorp (482370) GeneSeq PLUS

Test info

Test name:

Mucolipidosis type IV mutation detection

Test number:

13565

Excellian order number:

LAB13565

Abbreviation:

ML4

Alternate names:

MLIV
Sialolipidosis

Tests included:

Additional culture fee may be included if cultured cells are needed.

Useful for:

Carrier testing for mucolipidosis type IV in the Ashkenazi Jewish population. DNA testing may be used to confirm affected status. Prenatal testing is available.

Specimen

Specimen type:

EDTA whole blood

Collection container:

Lavender (EDTA), 10mL

Volume:

7.0 mL

Minimum volume:

3.0 mL

Collection instructions:

Immediately following collection, mix sample thoroughly by gently inverting 8 - 10, times to prevent clotting

Transport container:

Lavender (EDTA), 10mL

Alternate specimen type:

ACD whole blood
Amniotic fluid
Chorionic villus sample (CVS) (submission of maternal blood is requiRed for fetal testing)

Alternate collection container:

Yellow ACD (A or B)

Sterile vial/container

Alternate specimen volume:

ACD whole blood - 7 mL (minimum 3 mL)
Amniotic fluid - 10 mL (minimum 5 mL)
Chorionic villus sample (CVS) - 20 mg (minimum 10 mg)

Alternate transport container:

Yellow (ACD) tube

Sterile vial/container

Transport and stability:

Ambient

Refrigerated

Reason for rejection:

Frozen specimen
Hemolysis
Quantity not sufficient for analysis (QNS)
Improper container

Performance

Performing lab:

LabCorp RTP (511386): R-LC

Days set up:

2 times per week, or as needed

TAT:

8 - 15 days
If cultured cells are needed, an additional 7-12 days may be required

Method:

Polymerase chain reaction (PCR), primer extension and flow-sorted bead array analysis

Clinical and Interpretive info

Reference ranges:

An interpretive report will be provided

Clinical information:

Mucolipidosis Type IV (MLIV) is an autosomal recessive neurodegenerative lysosomal storage disorder associated with growth and psychomotor retardation, as well as opthalmologic abnormalities (OMIM 252650). This disorder primarily occurs among Ashkenazi Jewish individuals.

Two founder mutations, IVS3-2 A>G and 511del6434, account for >95% of the mutant alleles in the Jewish population. MLIV is rare in non-Jewish individuals and the detection rate of mutations is not known and likely to be negligible. DNA test results must be combined with clinical information for the most accurate interpretation.

Billing

Preauthorization:

This test may require preauthorization from the insurance provider. Check the payer guidelines and, if needed, obtain the pre-authorization prior to sample collection.

CPT codes:

81290

Subject to medical necessity (Y/N):

Yes

LOINC code:

Result 34658-5

Other billing information:

Medical necessity

Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medical billing request form along with the sample.

Complete and submit the form to notify us of the need for Allina Health Laboratory to bill insurance for Molecular testing performed
All information requested is required in order for your request to be completed

Molecular Medicare billing request

Tracking

Date created:

04/10/2019

Revised date:

01/02/2024

Review date:

01/02/2024