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Molecular genetic testing, specifically for the IKBKAP gene, is a critical procedure aimed at identifying mutations that can lead to familial dysautonomia. The IKBKAP gene provides essential instructions for the production of the IKAP protein, which is a component of a six-protein elongation complex. This complex interacts with enzymes that are vital for transcription, the process through which genetic information is transferred from DNA to the cellular machinery responsible for protein synthesis. When there are two copies of the mutated IKBKAP gene present in an individual's cells, the splicing process that creates the blueprint for the IKAP protein is disrupted. This disruption results in an inconsistent production of the IKAP protein, which is particularly detrimental to brain cells that rely on adequate levels of this protein for proper function. Familial dysautonomia is inherited in an autosomal recessive manner, meaning that an individual must inherit mutations from both parents to develop the disorder. Those who inherit the mutation from only one parent are considered carriers and typically do not exhibit symptoms. The disorder is most prevalent among individuals of Ashkenazi Jewish descent, particularly those from Central and Eastern Europe. The IKBKAP gene is located on chromosome 9, with the most common mutations being IVS20(+6TC), also represented as 2507+6T>C, which accounts for nearly 99% of cases, and R696P. Familial dysautonomia significantly impacts the autonomic nervous system, which governs involuntary bodily functions such as breathing, digestion, and heart rate, as well as the sensory nervous system, which is responsible for sensations like pain and temperature. Symptoms of this disorder typically manifest in infancy or early childhood and can include a range of serious health issues, such as difficulty maintaining body temperature, poor feeding, recurrent pneumonia, and growth retardation. The severity of the disorder can lead to a significantly reduced life expectancy, with approximately half of those affected not surviving past the age of 40. Therefore, molecular genetic testing is crucial for individuals exhibiting symptoms of familial dysautonomia or those with a family history of the condition.
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The molecular genetic testing for the IKBKAP gene is indicated in the following scenarios:
The procedure for molecular genetic testing of the IKBKAP gene involves several key steps:
After the molecular genetic testing for the IKBKAP gene, individuals may receive counseling regarding the results, especially if a mutation is identified. Genetic counseling is essential to help patients and their families understand the implications of the findings, including the risk of familial dysautonomia and the potential for being a carrier. Follow-up care may be recommended based on the results, particularly for those diagnosed with the disorder, to manage symptoms and provide support. Additionally, individuals who are carriers may benefit from discussions about family planning and the implications for future offspring. Regular monitoring and supportive care may be necessary for those affected by familial dysautonomia to address the various health challenges associated with the condition.
| Short Descr | IKBKAP GENE | Medium Descr | IKBKAP GENE ANALYSIS COMMON VARIANTS | Long Descr | IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein) (eg, familial dysautonomia) gene analysis, common variants (eg, 2507+6T>C, R696P) | 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. | GW | Service not related to the hospice patient's terminal condition | 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. | GA | Waiver of liability statement issued as required by payer policy, individual case | 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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