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The CPT® Code 81470 pertains to molecular genetic testing specifically designed for the evaluation of suspected X-linked intellectual disability (XLID), which can be either syndromic or non-syndromic in nature. This testing involves a genomic sequence analysis panel that must include the sequencing of at least 60 genes, which are critical for identifying potential genetic causes of intellectual disability. The genes included in this panel are ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2, MED12, MID1, OCRL, RPS6KA3, and SLC16A2, among others. Intellectual disability (ID) is characterized by significant limitations in both intellectual functioning and adaptive behavior, which manifests before the age of 18. Typically, individuals with ID have an intelligence quotient (IQ) of 70 or below, accompanied by challenges in at least two of the following areas: communication, social skills, self-direction, functional academic skills, utilization of community resources, occupational abilities, leisure activities, and health and safety management. In many instances, XLID presents as non-syndromic, meaning that affected individuals may not exhibit any additional physical or clinical features that could assist in diagnosis. Males are often more severely affected, displaying moderate to severe intellectual disabilities, while carrier females may experience milder symptoms. The testing process involves analyzing whole blood or isolated DNA to assess the specified genes using advanced massively parallel sequencing techniques. Additionally, to identify deletion or duplication mutations, DNA from whole blood is subjected to a gene-targeted comparative genomic hybridization (CGH) array. The use of CPT® Code 81470 allows for the reporting of genomic sequence analysis for genes associated with XLID, excluding those identified through duplication or deletion patterns, which are reported under CPT® Code 81471.
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Suspected X-linked intellectual disability (XLID) - Molecular genetic testing is indicated for males diagnosed with intellectual disability who have normal chromosomes and negative Fragile X and genomic array testing. Additionally, it is used to assess the carrier status of adult females with a positive family history of XLID.
Step 1: Sample Collection - The procedure begins with the collection of a whole blood sample or isolated DNA from the patient. This sample serves as the basis for the genomic analysis, ensuring that the genetic material is suitable for testing.
Step 2: Genomic Sequencing - The collected DNA is subjected to massively parallel sequencing, which allows for the comprehensive analysis of at least 60 specific genes known to be associated with X-linked intellectual disability. This step is crucial for identifying potential mutations that may contribute to the patient's condition.
Step 3: Comparative Genomic Hybridization (CGH) Array - In cases where deletion or duplication mutations are suspected, the isolated DNA is hybridized to a gene-targeted comparative genomic hybridization (CGH) array. This technique enables the detection of chromosomal abnormalities that may not be identified through standard sequencing methods.
Step 4: Data Analysis - After sequencing and hybridization, the resulting data is analyzed to identify any genetic variants present in the tested genes. This analysis is essential for determining the presence of mutations that could explain the intellectual disability.
Step 5: Reporting Results - Finally, the findings from the genomic sequence analysis are compiled into a report. This report details any identified mutations and their potential implications for the patient's diagnosis and management, providing valuable information for healthcare providers.
Post-procedure care primarily involves the interpretation of the test results by a qualified healthcare professional. Patients and their families may require counseling to understand the implications of the findings, especially if a genetic mutation is identified. Follow-up appointments may be necessary to discuss management options, potential interventions, and the implications for family members, particularly in the case of carrier status in females. It is also important to monitor the patient for any developmental or behavioral concerns that may arise as they grow.
| Short Descr | X-LINKED INTELLECTUAL DBLT | Medium Descr | X-LINKED INTELLECTUAL DBLT GENOMIC SEQ ANALYS | Long Descr | X-linked intellectual disability (XLID) (eg, syndromic and non-syndromic XLID); genomic sequence analysis panel, must include sequencing 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 |
| 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. |
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| 2015-01-01 | Added | Added |
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