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Molecular genetic testing is a critical procedure utilized for diagnosing suspected syndromic or non-syndromic X-linked intellectual disability (XLID). This testing involves a genomic sequence analysis panel that must encompass at least 60 specific genes, which are essential for identifying potential genetic causes of intellectual disability in affected individuals. XLID is characterized by cognitive impairment that is non-progressive and typically manifests before the age of 18. The condition is defined by an intelligence quotient (IQ) of 70 or below, accompanied by impairments in adaptive functioning across at least two domains, such as communication, social skills, self-direction, and the ability to manage health and safety. In most instances, XLID presents as non-syndromic, meaning that there are no additional physical features or symptoms that assist in the diagnosis. Males diagnosed with XLID may exhibit moderate to severe intellectual disability, while carrier females may experience milder symptoms. The testing process involves analyzing whole blood or isolated DNA to assess the presence of mutations in the specified genes, including ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2, MED12, MID1, OCRL, RPS6KA3, and SLC16A2, using advanced techniques such as massively parallel sequencing. Additionally, to identify deletion or duplication mutations, DNA extracted from whole blood is hybridized to a gene-targeted comparative genomic hybridization (CGH) array. This comprehensive approach ensures accurate detection of genetic anomalies associated with XLID, facilitating appropriate diagnosis and management of affected individuals.
© Copyright 2025 Coding Ahead. All rights reserved.
The molecular genetic testing for X-linked intellectual disability (XLID) is indicated for the following conditions:
The procedure for conducting molecular genetic testing for XLID involves several critical steps:
After the molecular genetic testing is completed, results are analyzed and interpreted by qualified professionals. Patients and their families will receive counseling regarding the findings, which may include information about the presence of genetic mutations associated with XLID. Follow-up care may be necessary to address any identified issues and to provide support for individuals diagnosed with XLID. It is important to consider the implications of the results for family planning and the potential need for additional testing or interventions based on the findings.
| Short Descr | X-LINKED INTELLECTUAL DBLT | Medium Descr | X-LINKED INTELLECTUAL DBLT DUP/DEL GENE ANALYS | Long Descr | X-linked intellectual disability (XLID) (eg, syndromic and non-syndromic XLID); duplication/deletion gene analysis, must include analysis of at least 60 genes, including ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2, MED12, MID1, OCRL, RPS6KA3, and SLC16A2 | 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 |
| 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. |
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| 2015-01-01 | Added | Added |
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