CPT® Code 81200

Official Description

ASPA (aspartoacylase) (eg, Canavan disease) gene analysis, common variants (eg, E285A, Y231X)

Common Language Description

The CPT® Code 81200 pertains to the molecular genetic testing of the ASPA (aspartoacylase) gene, specifically focusing on the analysis of common variants associated with Canavan disease. Canavan disease is a genetic disorder that is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene—one from each parent—to manifest the disease. Those who inherit only one mutated copy become carriers but do not exhibit symptoms. This condition predominantly affects individuals of Ashkenazi Jewish descent, highlighting the importance of genetic testing in this population. The ASPA gene plays a crucial role in producing the enzyme aspartoacylase, which is essential for the breakdown of N-acetyl-L-aspartic acid (NAA) in the brain. NAA is believed to be vital for the maintenance of white matter, which consists of nerve fibers insulated with myelin. Mutations in the ASPA gene can severely impair the function of aspartoacylase, leading to a reduction or complete loss of its enzymatic activity. This impairment results in the accumulation of NAA and subsequent deterioration of white matter, which is critical for proper neurological function. Among the more than 55 known mutations of the ASPA gene, the E285A and Y231X variants are the most prevalent. The E285A mutation alters the enzyme's structure by substituting glutamic acid with alanine, while the Y231X mutation leads to a premature stop in protein synthesis, resulting in a nonfunctional enzyme. Genetic testing for these mutations is essential for identifying carriers and diagnosing individuals with Canavan disease, which significantly impacts various aspects of infant development, including motor skills, feeding, and cognitive abilities. Tragically, most affected individuals do not survive past 18 months, although some may live into their teenage years or early adulthood if they have a milder form of the disease.

1. Indications

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

Canavan Disease Diagnosis This test is performed to confirm a diagnosis of Canavan disease in individuals who exhibit clinical symptoms consistent with the disorder.
Carrier Testing The test is utilized to identify carriers of the ASPA gene mutation, particularly in individuals with a family history of Canavan disease or those of Ashkenazi Jewish descent.
Prenatal Testing Genetic testing may be conducted during pregnancy to determine if the fetus has inherited the ASPA gene mutation from the parents.

2. Procedure

The procedure for conducting the ASPA gene analysis involves several key steps:

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 standard laboratory techniques to isolate the genetic material for further testing.
Mutation Analysis The extracted DNA is analyzed for specific mutations in the ASPA gene, focusing on common variants such as E285A and Y231X. This is typically done using polymerase chain reaction (PCR) and sequencing methods to identify any genetic alterations.
Result Interpretation The results of the genetic analysis are interpreted by a qualified geneticist or laboratory specialist, who will determine the presence of any mutations and their implications for the individual’s health.
Reporting A comprehensive report is generated, detailing the findings of the genetic test, including whether any mutations were identified and their potential impact on the individual’s health and development.

3. Post-Procedure

After the genetic testing procedure, individuals may receive counseling to discuss the results and their implications. If a mutation is identified, genetic counseling can provide information on the risks of Canavan disease for the individual and their family members. Additionally, support resources may be offered to assist families in understanding the condition and managing any associated health concerns. Follow-up testing may be recommended for family members or for prenatal purposes if applicable. It is important for individuals to discuss any concerns or questions with their healthcare provider to ensure they receive appropriate guidance based on the test results.

Short Descr	ASPA GENE
Medium Descr	ASPA GENE ANALYSIS COMMON VARIANTS
Long Descr	ASPA (aspartoacylase) (eg, Canavan disease) gene analysis, common variants (eg, E285A, Y231X)
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.
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
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
GW	Service not related to the hospice patient's terminal condition