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

  
Mucolipidosis type IV mutation detection
  
13565
  
LAB13565
  
ML4
  
MLIV
Sialolipidosis
  

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

  

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

  
EDTA whole blood
  
  
7.0 mL
  
3.0 mL
  

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

  

Lavender (EDTA), 10mL

 

 

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

Yellow ACD (A or B)

 

Sterile vial/container

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

Yellow (ACD) tube

Sterile vial/container

  

Molecular Medicare Billing Request

Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.

  

Ambient

Refrigerated

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

Performance

  
LabCorp RTP (511386): R-LC
  
2 times per week, or as needed
  
8 - 15 days
If cultured cells are needed, an additional 7-12 days may be required
  

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

Clinical and Interpretive info

  

An interpretive report will be provided

  

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

  
This test may require preauthorization from the insurance provider. Check the payer guidelines and, if needed, obtain the pre-authorization prior to sample collection.
  
81290
  
Yes
  
Result 34658-5
  

Medical necessity

Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.

Molecular Medicare Billing Request

Tracking

  
04/10/2019
  
01/02/2024
  
01/02/2024