CPT® Code 81209

Official Description

BLM (Bloom syndrome, RecQ helicase-like) (eg, Bloom syndrome) gene analysis, 2281del6ins7 variant

Common Language Description

The CPT® Code 81209 pertains to the molecular genetic testing aimed at identifying a specific mutation in the BLM (Bloom syndrome, RecQ helicase-like) gene, particularly the 2281del6ins7 variant. Bloom syndrome is an autosomal recessive disorder, meaning that it manifests when an individual inherits mutations in the BLM gene from both parents. Those who inherit the mutation from only one parent are considered carriers and typically do not exhibit symptoms of the syndrome. This condition is most prevalent among individuals of Ashkenazi Jewish descent, particularly those from Central and Eastern Europe, where the 2281del6ins7 or blmAsh variant is commonly found. The BLM gene is crucial for producing the RecQ helicase protein, an enzyme that plays a vital role in DNA replication by unwinding the double helix structure, allowing for the accurate copying of genetic material into sister chromatids. When mutations occur in the BLM gene, they disrupt genome stability, leading to an increased rate of sister chromatid exchange, which can result in gaps or breaks in the DNA sequence. This impairment can hinder normal cellular functions, promote cell death, and slow down growth. The BLM enzyme is essential for maintaining DNA stability and can also help restart the DNA replication process when it encounters obstacles. Genetic testing for the BLM mutation is critical for identifying carriers and diagnosing individuals with Bloom syndrome. The clinical features associated with the BLM mutation include short stature, distinctive facial rashes, high-pitched voice, and various skin changes, among others. Additionally, individuals with this mutation may experience immune system disorders, increased cancer risk, reproductive issues, and cognitive challenges.

1. Indications

The molecular genetic testing for the BLM gene analysis is indicated for the following conditions:

Bloom Syndrome Diagnosis Testing is performed to confirm a diagnosis of Bloom syndrome in individuals presenting with characteristic clinical features.
Carrier Identification Testing is utilized to identify carriers of the BLM gene mutation, particularly in individuals with a family history of Bloom syndrome.
Population Screening Screening may be indicated for individuals of Ashkenazi Jewish descent, as they are at a higher risk for the 2281del6ins7 variant.

2. Procedure

The procedure for BLM gene analysis involves several key steps to ensure accurate identification of the 2281del6ins7 variant:

Sample Collection A biological sample, typically blood or saliva, is collected from the individual undergoing testing. This sample contains the DNA necessary for analysis.
DNA Extraction The DNA is extracted from the collected sample using standardized laboratory techniques to isolate the genetic material for further testing.
Mutation Analysis The extracted DNA is subjected to specific molecular techniques, such as polymerase chain reaction (PCR) and sequencing, to identify the presence of the 2281del6ins7 variant in the BLM gene.
Data Interpretation The results of the genetic analysis are interpreted by qualified laboratory personnel, who assess the presence or absence of the mutation and its implications for the individual.
Reporting A comprehensive report is generated, detailing the findings of the analysis, including whether the mutation was detected and any relevant recommendations for further action or testing.

3. Post-Procedure

After the BLM gene analysis is completed, individuals may receive counseling regarding the results, especially if a mutation is identified. This counseling can include information about the implications of being a carrier or having Bloom syndrome, potential health risks, and options for family planning. Follow-up testing may be recommended for family members, particularly if a mutation is found. Additionally, individuals diagnosed with Bloom syndrome may require ongoing medical management to address the various health issues associated with the condition, including regular monitoring for immune system disorders and cancer predisposition.

Short Descr	BLM GENE
Medium Descr	BLM GENE ANALYSIS 2281DEL6INS7 VARIANT
Long Descr	BLM (Bloom syndrome, RecQ helicase-like) (eg, Bloom syndrome) gene analysis, 2281del6ins7 variant
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)	T2D - Other tests - other
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.
XU	Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service
XS	Separate structure, a service that is distinct because it was performed on a separate organ/structure
GW	Service not related to the hospice patient's terminal condition
GA	Waiver of liability statement issued as required by payer policy, individual case
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.
GV	Attending physician not employed or paid under arrangement by the patient's hospice provider