© Copyright 2025 American Medical Association. All rights reserved.
Molecular genetic testing is a critical procedure utilized to identify hereditary retinal disorders, which include conditions such as retinitis pigmentosa, Leber congenital amaurosis, and cone-rod dystrophy. These disorders can manifest at birth or may develop later in life, leading to progressive vision loss characterized by symptoms such as night blindness and distortion of vision. The testing process involves the use of a genomic sequence analysis panel that must include the sequencing of at least 15 specific genes known to be associated with these conditions. The genes included in this analysis are ABCA4, CNGA1, CRB1, EYS, PDE6A, PDE6B, PRPF31, PRPH2, RDH12, RHO, RP1, RP2, RPE65, RPGR, and USH2A. During the testing, targeted gene segments, known as exons, are extracted from a whole blood specimen. These segments are then enriched through a process called hybridization, which allows for the selective capture of the regions of interest. Following this, next-generation sequencing technology is employed to detect any mutations present within these genes. The results of this genetic testing can be pivotal in confirming a clinical diagnosis for both syndromic and non-syndromic eye disorders. Additionally, it can identify adults who may carry familial germline mutations, providing valuable information for genetic counseling and potential future interventions.
© Copyright 2025 Coding Ahead. All rights reserved.
The genomic sequence analysis panel for hereditary retinal disorders is indicated for the following conditions:
The procedure for conducting the genomic sequence analysis panel involves several key steps:
After the genomic sequence analysis is completed, the results are compiled and interpreted by a qualified geneticist or medical professional. Patients may receive genetic counseling to discuss the implications of the findings, including potential risks for family members and options for management or treatment. Follow-up care may be recommended based on the results, particularly if a hereditary condition is confirmed. It is essential for patients to understand the significance of the results and how they may impact their health and that of their relatives.
| Short Descr | HERED RTA DO GEN SEQ 15 | Medium Descr | HEREDITARY RTA DO GEN SEQ ALYS AT LEAST 15 GEN | Long Descr | Hereditary retinal disorders (eg, retinitis pigmentosa, Leber congenital amaurosis, cone-rod dystrophy), genomic sequence analysis panel, must include sequencing of at least 15 genes, including ABCA4, CNGA1, CRB1, EYS, PDE6A, PDE6B, PRPF31, PRPH2, RDH12, RHO, RP1, RP2, RPE65, RPGR, and USH2A | 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. | XU | Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service | GW | Service not related to the hospice patient's terminal condition |
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| 2025-01-01 | Changed | Short and Medium Descriptions changed. |
| 2016-01-01 | Added | Added |
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