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Official Description

Genetic testing for severe inherited conditions (eg, cystic fibrosis, Ashkenazi Jewish-associated disorders [eg, Bloom syndrome, Canavan disease, Fanconi anemia type C, mucolipidosis type VI, Gaucher disease, Tay-Sachs disease], beta hemoglobinopathies, phenylketonuria, galactosemia), genomic sequence analysis panel, must include sequencing of at least 15 genes (eg, ACADM, ARSA, ASPA, ATP7B, BCKDHA, BCKDHB, BLM, CFTR, DHCR7, FANCC, G6PC, GAA, GALT, GBA, GBE1, HBB, HEXA, IKBKAP, MCOLN1, PAH)

© Copyright 2025 American Medical Association. All rights reserved.

Common Language Description

The CPT® Code 81443 pertains to genetic testing specifically designed for the identification of severe inherited conditions. This testing utilizes a genomic sequence analysis panel that must include the sequencing of at least 15 genes. Among the conditions that can be identified through this testing are cystic fibrosis and various disorders associated with Ashkenazi Jewish ancestry, such as Bloom syndrome, Canavan disease, and Gaucher disease, among others. The genetic panel encompasses a range of genes, including but not limited to ACADM, ARSA, ASPA, ATP7B, BCKDHA, BCKDHB, BLM, CFTR, DHCR7, FANCC, G6PC, GAA, GALT, GBA, GBE1, HBB, HEXA, IKBKAP, MCOLN1, and PAH. Genomic sequencing is a critical process that determines the precise order of amino acids, or bases, that constitute DNA molecules. This analysis examines all coding exons of the genes included in the panel, allowing for the detection of various genetic mutations, including deletion/duplication mutations, insertion mutations, single nucleotide polymorphisms (SNPs), structural variations (SV), and copy number variations (CNVs). The application of genomic panel testing is significant in clinical settings, as it may be indicated for confirming a clinical diagnosis, identifying at-risk family members, and determining carrier status during prenatal assessments. This comprehensive approach to genetic testing plays a vital role in the early detection and management of severe inherited conditions.

© Copyright 2025 Coding Ahead. All rights reserved.

1. Indications

The genetic testing represented by CPT® Code 81443 is indicated for the following severe inherited conditions:

  • Cystic Fibrosis A genetic disorder that affects the respiratory and digestive systems, leading to severe lung infections and difficulty in digesting food.
  • Ashkenazi Jewish-associated disorders This includes a range of genetic conditions prevalent in individuals of Ashkenazi Jewish descent, such as:
    • Bloom syndrome A rare genetic disorder characterized by short stature, sun-sensitive skin changes, and an increased risk of cancer.
    • Canavan disease A severe neurological disorder that affects the brain's ability to metabolize certain substances, leading to progressive loss of motor skills and cognitive function.
    • Fanconi anemia type C A genetic disorder that leads to bone marrow failure and increased cancer risk.
    • Mucolipidosis type VI A lysosomal storage disorder that affects multiple systems in the body, leading to various physical and developmental issues.
    • Gaucher disease A genetic disorder resulting from the accumulation of fatty substances in certain organs, leading to various symptoms including enlargement of the liver and spleen.
    • Tay-Sachs disease A fatal genetic disorder that results in the destruction of nerve cells in the brain and spinal cord.
  • Beta hemoglobinopathies A group of inherited blood disorders, including sickle cell disease and beta-thalassemia, that affect hemoglobin production.
  • Phenylketonuria (PKU) A metabolic disorder caused by a deficiency in the enzyme needed to process phenylalanine, leading to intellectual disability if untreated.
  • Galactosemia A genetic disorder that affects the body's ability to process galactose, a sugar found in milk and dairy products.

2. Procedure

The procedure for CPT® Code 81443 involves several critical steps to ensure accurate genetic testing for severe inherited conditions:

  • Step 1: Sample Collection A biological sample, typically blood or saliva, is collected from the patient. This sample serves as the source of DNA for the genomic analysis.
  • Step 2: DNA Extraction The DNA is extracted from the collected sample using laboratory techniques that isolate the genetic material for further analysis.
  • Step 3: Sequencing of Genes The genomic sequence analysis panel is performed, which includes the sequencing of at least 15 specific genes. This step involves determining the order of nucleotides in the DNA, focusing on all coding exons of the selected genes.
  • Step 4: Mutation Analysis The sequencing results are analyzed to identify various types of genetic mutations, including deletion/duplication mutations, insertion mutations, single nucleotide polymorphisms (SNPs), structural variations (SV), and copy number variations (CNVs).
  • Step 5: Interpretation of Results The laboratory interprets the sequencing data to determine the presence of any mutations associated with the severe inherited conditions being tested for. This interpretation is crucial for clinical decision-making.
  • Step 6: Reporting A comprehensive report is generated, detailing the findings of the genetic analysis, including any identified mutations and their potential implications for the patient and their family.

3. Post-Procedure

After the completion of the genetic testing procedure under CPT® Code 81443, patients may receive counseling regarding the results. This counseling is essential for understanding the implications of any identified genetic conditions, including potential health risks for the patient and their family members. Additionally, healthcare providers may discuss options for further testing, management strategies, and the importance of informing at-risk relatives. Follow-up appointments may be scheduled to address any questions or concerns regarding the results and to provide support for any necessary medical or psychological interventions.

Short Descr GENETIC TSTG SEVERE INH COND
Medium Descr GENETIC TESTING FOR SEVERE INHERITED CONDITIONS
Long Descr Genetic testing for severe inherited conditions (eg, cystic fibrosis, Ashkenazi Jewish-associated disorders [eg, Bloom syndrome, Canavan disease, Fanconi anemia type C, mucolipidosis type VI, Gaucher disease, Tay-Sachs disease], beta hemoglobinopathies, phenylketonuria, galactosemia), genomic sequence analysis panel, must include sequencing of at least 15 genes (eg, ACADM, ARSA, ASPA, ATP7B, BCKDHA, BCKDHB, BLM, CFTR, DHCR7, FANCC, G6PC, GAA, GALT, GBA, GBE1, HBB, HEXA, IKBKAP, MCOLN1, PAH)
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) none
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.
GA Waiver of liability statement issued as required by payer policy, individual case
GV Attending physician not employed or paid under arrangement by the patient's hospice provider
GW Service not related to the hospice patient's terminal condition
GY Item or service statutorily excluded, does not meet the definition of any medicare benefit or, for non-medicare insurers, is not a contract benefit
GZ Item or service expected to be denied as not reasonable and necessary
Date
Action
Notes
2019-11-01 Changed per Errata dated 2019-11-01, code 81401 replaced with code 81329 in the first guideline
2019-01-01 Added Added