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Molecular genetic testing, specifically for the MCOLN1 gene, is a diagnostic procedure aimed at identifying mutations associated with mucolipidosis, type IV. The MCOLN1 gene encodes the mucolipin 1 protein, which plays a crucial role in the transport of fats and proteins across the membranes of lysosomes and endosomes—cellular structures responsible for digesting and recycling material. When mutations occur in the MCOLN1 gene, the production of functional mucolipin 1 is compromised, leading to a lysosomal storage disorder known as mucolipidosis, type IV. This disorder is characterized by the accumulation of fats and proteins within lysosomes and endosomes, which can disrupt normal cellular function. The mucolipin 1 protein is essential for the proper development and maintenance of various cell types, including brain and nerve cells, light-sensitive retinal cells, and cells that produce digestive acids. Mucolipidosis, type IV is inherited in an autosomal recessive manner, meaning that individuals must inherit mutations from both parents to manifest the disease. Those who inherit the mutation from only one parent are considered carriers. The condition is particularly prevalent among individuals of Ashkenazi Jewish descent, with specific common variants identified in this population that lead to nonfunctional mucolipin 1 protein. Symptoms typically manifest in the first year of life and can include developmental delays, vision loss, and other serious health issues, while atypical forms may present milder symptoms later in life. Molecular genetic testing is crucial for diagnosing this disorder, especially in individuals exhibiting symptoms of lysosomal storage disorders or those with a family history of mucolipidosis, type IV.
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The molecular genetic testing for the MCOLN1 gene is indicated in the following scenarios:
The procedure for molecular genetic testing of the MCOLN1 gene involves several key steps:
After the molecular genetic testing is completed, individuals may receive counseling regarding the results, especially if mutations are identified. This counseling can help in understanding the implications of the findings, including potential health risks and the importance of family testing. Follow-up care may be necessary to monitor any symptoms associated with mucolipidosis, type IV, and to provide support for managing the condition if diagnosed. Additionally, healthcare providers may discuss reproductive options for carriers of the MCOLN1 mutation to inform family planning decisions.
| Short Descr | MCOLN1 GENE | Medium Descr | MCOLN1 MUCOLIPIN1 GENE ANALYSIS COMMON VARIANTS | Long Descr | MCOLN1 (mucolipin 1) (eg, Mucolipidosis, type IV) gene analysis, common variants (eg, IVS3-2A>G, del6.4kb) | Status Code | Statutory Exclusion (from MPFS, may be paid under other methodologies) | Global Days | XXX - Global Concept Does Not Apply | PC/TC Indicator (26, TC) | 9 - Not Applicable | Multiple Procedures (51) | 9 - Concept does not apply. | Bilateral Surgery (50) | 9 - Concept does not apply. | Physician Supervisions | 09 - Concept does not apply. | Assistant Surgeon (80, 82) | 9 - Concept does not apply. | Co-Surgeons (62) | 9 - Concept does not apply. | Team Surgery (66) | 9 - Concept does not apply. | Diagnostic Imaging Family | 99 - Concept Does Not Apply | CLIA Waived (QW) | No | APC Status Indicator | Service Paid under Fee Schedule or Payment System other than OPPS | Type of Service (TOS) | 5 - Diagnostic Laboratory | Berenson-Eggers TOS (BETOS) | T1H - Lab tests - other (non-Medicare fee schedule) | MUE | 1 | CCS Clinical Classification | 234 - Pathology |
| 90 | Reference (outside) laboratory: when laboratory procedures are performed by a party other than the treating or reporting physician or other qualified health care professional, the procedure may be identified by adding modifier 90 to the usual procedure number. | 59 | Distinct procedural service: under certain circumstances, it may be necessary to indicate that a procedure or service was distinct or independent from other non-e/m services performed on the same day. modifier 59 is used to identify procedures/services, other than e/m services, that are not normally reported together, but are appropriate under the circumstances. documentation must support a different session, different procedure or surgery, different site or organ system, separate incision/excision, separate lesion, or separate injury (or area of injury in extensive injuries) not ordinarily encountered or performed on the same day by the same individual. however, when another already established modifier is appropriate it should be used rather than modifier 59. only if no more descriptive modifier is available, and the use of modifier 59 best explains the circumstances, should modifier 59 be used. note: modifier 59 should not be appended to an e/m service. to report a separate and distinct e/m service with a non-e/m service performed on the same date, see modifier 25. | GW | Service not related to the hospice patient's terminal condition | XU | Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service |
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| 2012-01-01 | Added | Added |
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