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Official Description

Molecular pathology procedure, Level 1 (eg, identification of single germline variant [eg, SNP] by techniques such as restriction enzyme digestion or melt curve analysis)

ACADM (acyl-CoA dehydrogenase, C-4 to C-12 straight chain, MCAD) (eg, medium chain acyl dehydrogenase deficiency), K304E variant

ACE (angiotensin converting enzyme) (eg, hereditary blood pressure regulation), insertion/deletion variant

AGTR1 (angiotensin II receptor, type 1) (eg, essential hypertension), 1166A>C variant

BCKDHA (branched chain keto acid dehydrogenase E1, alpha polypeptide) (eg, maple syrup urine disease, type 1A), Y438N variant

CCR5 (chemokine C-C motif receptor 5) (eg, HIV resistance), 32-bp deletion mutation/794 825del32 deletion

CLRN1 (clarin 1) (eg, Usher syndrome, type 3), N48K variant

F2 (coagulation factor 2) (eg, hereditary hypercoagulability), 1199G>A variant

F5 (coagulation factor V) (eg, hereditary hypercoagulability), HR2 variant

F7 (coagulation factor VII [serum prothrombin conversion accelerator]) (eg, hereditary hypercoagulability), R353Q variant

F13B (coagulation factor XIII, B polypeptide) (eg, hereditary hypercoagulability), V34L variant

FGB (fibrinogen beta chain) (eg, hereditary ischemic heart disease), -455G>A variant

FGFR1 (fibroblast growth factor receptor 1) (eg, Pfeiffer syndrome type 1, craniosynostosis), P252R variant

FGFR3 (fibroblast growth factor receptor 3) (eg, Muenke syndrome), P250R variant

FKTN (fukutin) (eg, Fukuyama congenital muscular dystrophy), retrotransposon insertion variant

GNE (glucosamine [UDP-N-acetyl]-2-epimerase/N-acetylmannosamine kinase) (eg, inclusion body myopathy 2 [IBM2], Nonaka myopathy), M712T variant

IVD (isovaleryl-CoA dehydrogenase) (eg, isovaleric acidemia), A282V variant

LCT (lactase-phlorizin hydrolase) (eg, lactose intolerance), 13910 C>T variant

NEB (nebulin) (eg, nemaline myopathy 2), exon 55 deletion variant

PCDH15 (protocadherin-related 15) (eg, Usher syndrome type 1F), R245X variant

SERPINE1 (serpine peptidase inhibitor clade E, member 1, plasminogen activator inhibitor -1, PAI-1) (eg, thrombophilia), 4G variant

SHOC2 (soc-2 suppressor of clear homolog) (eg, Noonan-like syndrome with loose anagen hair), S2G variant

SRY (sex determining region Y) (eg, 46,XX testicular disorder of sex development, gonadal dysgenesis), gene analysis

TOR1A (torsin family 1, member A [torsin A]) (eg, early-onset primary dystonia [DYT1]), 907_909delGAG (904_906delGAG) variant

© Copyright 2025 American Medical Association. All rights reserved.

Common Language Description

Molecular pathology procedures are specialized tests conducted at the molecular level to diagnose, manage, and provide prognostic information regarding genetic disorders, cancers, infectious diseases, and tissue compatibility in transplant scenarios. These procedures are categorized by complexity, with different levels reflecting the professional effort and laboratory resources required for their execution. Level I molecular pathology tests, such as those identified by CPT® Code 81400, focus on the identification of single variants, including single nucleotide polymorphisms (SNPs), utilizing straightforward techniques like restriction enzyme digestion or melt curve analysis. In the context of these tests, a molecular pathologist evaluates the patient's medical history, clinical findings, and results from other diagnostic assessments before proceeding with the Level I test. The code encompasses a variety of specific Level I tests, which share similar professional expertise requirements, labor intensity, and laboratory costs, all performed using comparable methodologies. Upon completion of the test, the molecular pathologist interprets the findings and generates a comprehensive written report detailing the results.

© Copyright 2025 Coding Ahead. All rights reserved.

1. Indications

The molecular pathology procedure identified by CPT® Code 81400 is indicated for various genetic conditions and disorders. The following are specific indications for which this procedure may be performed:

  • ACADM (Medium Chain Acyl Dehydrogenase Deficiency) - Identification of the K304E variant.
  • ACE (Hereditary Blood Pressure Regulation) - Detection of insertion/deletion variants.
  • AGTR1 (Essential Hypertension) - Analysis of the 1166A>C variant.
  • BCKDHA (Maple Syrup Urine Disease, Type 1A) - Identification of the Y438N variant.
  • CCR5 (HIV Resistance) - Detection of the 32-bp deletion mutation/794 825del32 deletion.
  • CLRN1 (Usher Syndrome, Type 3) - Identification of the N48K variant.
  • F2 (Hereditary Hypercoagulability) - Analysis of the 1199G>A variant.
  • F5 (Hereditary Hypercoagulability) - Detection of the HR2 variant.
  • F7 (Hereditary Hypercoagulability) - Identification of the R353Q variant.
  • F13B (Hereditary Hypercoagulability) - Analysis of the V34L variant.
  • FGB (Hereditary Ischemic Heart Disease) - Detection of the -455G>A variant.
  • FGFR1 (Pfeiffer Syndrome Type 1) - Identification of the P252R variant.
  • FGFR3 (Muenke Syndrome) - Analysis of the P250R variant.
  • FKTN (Fukuyama Congenital Muscular Dystrophy) - Detection of the retrotransposon insertion variant.
  • GNE (Inclusion Body Myopathy 2, Nonaka Myopathy) - Identification of the M712T variant.
  • IVD (Isovaleric Acidemia) - Analysis of the A282V variant.
  • LCT (Lactose Intolerance) - Detection of the 13910 C>T variant.
  • NEB (Nemaline Myopathy 2) - Identification of the exon 55 deletion variant.
  • PCDH15 (Usher Syndrome Type 1F) - Analysis of the R245X variant.
  • SERPINE1 (Thrombophilia) - Detection of the 4G variant.
  • SHOC2 (Noonan-like Syndrome with Loose Anagen Hair) - Identification of the S2G variant.
  • SRY (46,XX Testicular Disorder of Sex Development) - Gene analysis.
  • TOR1A (Early-Onset Primary Dystonia) - Identification of the 907_909delGAG (904_906delGAG) variant.

2. Procedure

The procedure for molecular pathology under CPT® Code 81400 involves several key steps, each critical to the accurate identification of genetic variants. The following outlines the procedural steps:

  • Step 1: Patient Evaluation - The molecular pathologist begins by reviewing the patient's medical history and clinical findings. This assessment is essential to determine the relevance of the molecular test and to contextualize the results within the patient's overall health status.
  • Step 2: Selection of Testing Methodology - Based on the specific variant being investigated, the pathologist selects an appropriate testing technique. Common methods for Level I tests include restriction enzyme digestion and melt curve analysis, which are utilized to identify single germline variants.
  • Step 3: Sample Preparation - A biological sample, typically blood or tissue, is collected from the patient. The sample is then processed to isolate the DNA, which is necessary for the subsequent analysis.
  • Step 4: Variant Identification - The selected technique is applied to the prepared sample to identify the presence of specific genetic variants. This step is crucial for diagnosing conditions associated with the identified variants.
  • Step 5: Result Interpretation - After the testing is completed, the molecular pathologist interprets the results, considering the patient's clinical context and any relevant prior diagnostic tests.
  • Step 6: Reporting - Finally, a detailed written report is generated, summarizing the findings of the test, including the identified variants and their potential implications for the patient's health.

3. Post-Procedure

Post-procedure care following the molecular pathology test under CPT® Code 81400 typically involves the communication of results to the patient and their healthcare provider. The molecular pathologist may discuss the findings in detail, including the implications of any identified genetic variants. This discussion may also cover potential next steps in management or treatment based on the results. Additionally, the healthcare provider may consider further testing or referrals to specialists, depending on the outcomes of the molecular pathology procedure. Continuous monitoring and follow-up may be necessary to address any health concerns that arise from the findings.

Short Descr MOPATH PROCEDURE LEVEL 1
Medium Descr MOLECULAR PATHOLOGY PROCEDURE LEVEL 1
Long Descr Molecular pathology procedure, Level 1 (eg, identification of single germline variant [eg, SNP] by techniques such as restriction enzyme digestion or melt curve analysis) ACADM (acyl-CoA dehydrogenase, C-4 to C-12 straight chain, MCAD) (eg, medium chain acyl dehydrogenase deficiency), K304E variant ACE (angiotensin converting enzyme) (eg, hereditary blood pressure regulation), insertion/deletion variant AGTR1 (angiotensin II receptor, type 1) (eg, essential hypertension), 1166A>C variant BCKDHA (branched chain keto acid dehydrogenase E1, alpha polypeptide) (eg, maple syrup urine disease, type 1A), Y438N variant CCR5 (chemokine C-C motif receptor 5) (eg, HIV resistance), 32-bp deletion mutation/794 825del32 deletion CLRN1 (clarin 1) (eg, Usher syndrome, type 3), N48K variant F2 (coagulation factor 2) (eg, hereditary hypercoagulability), 1199G>A variant F5 (coagulation factor V) (eg, hereditary hypercoagulability), HR2 variant F7 (coagulation factor VII [serum prothrombin conversion accelerator]) (eg, hereditary hypercoagulability), R353Q variant F13B (coagulation factor XIII, B polypeptide) (eg, hereditary hypercoagulability), V34L variant FGB (fibrinogen beta chain) (eg, hereditary ischemic heart disease), -455G>A variant FGFR1 (fibroblast growth factor receptor 1) (eg, Pfeiffer syndrome type 1, craniosynostosis), P252R variant FGFR3 (fibroblast growth factor receptor 3) (eg, Muenke syndrome), P250R variant FKTN (fukutin) (eg, Fukuyama congenital muscular dystrophy), retrotransposon insertion variant GNE (glucosamine [UDP-N-acetyl]-2-epimerase/N-acetylmannosamine kinase) (eg, inclusion body myopathy 2 [IBM2], Nonaka myopathy), M712T variant IVD (isovaleryl-CoA dehydrogenase) (eg, isovaleric acidemia), A282V variant LCT (lactase-phlorizin hydrolase) (eg, lactose intolerance), 13910 C>T variant NEB (nebulin) (eg, nemaline myopathy 2), exon 55 deletion variant PCDH15 (protocadherin-related 15) (eg, Usher syndrome type 1F), R245X variant SERPINE1 (serpine peptidase inhibitor clade E, member 1, plasminogen activator inhibitor -1, PAI-1) (eg, thrombophilia), 4G variant SHOC2 (soc-2 suppressor of clear homolog) (eg, Noonan-like syndrome with loose anagen hair), S2G variant SRY (sex determining region Y) (eg, 46,XX testicular disorder of sex development, gonadal dysgenesis), gene analysis TOR1A (torsin family 1, member A [torsin A]) (eg, early-onset primary dystonia [DYT1]), 907_909delGAG (904_906delGAG) 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) T1H - Lab tests - other (non-Medicare fee schedule)
MUE 2
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.
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.
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
GA Waiver of liability statement issued as required by payer policy, individual case
GW Service not related to the hospice patient's terminal condition
GZ Item or service expected to be denied as not reasonable and necessary
91 Repeat clinical diagnostic laboratory test: in the course of treatment of the patient, it may be necessary to repeat the same laboratory test on the same day to obtain subsequent (multiple) test results. under these circumstances, the laboratory test performed can be identified by its usual procedure number and the addition of modifier 91. note: this modifier may not be used when tests are rerun to confirm initial results; due to testing problems with specimens or equipment; or for any other reason when a normal, one-time, reportable result is all that is required. this modifier may not be used when other code(s) describe a series of test results (eg, glucose tolerance tests, evocative/suppression testing). this modifier may only be used for laboratory test(s) performed more than once on the same day on the same patient.
XS Separate structure, a service that is distinct because it was performed on a separate organ/structure
XU Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service
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2019-01-01 Changed Description Changed
2018-01-01 Changed Long description changed.
2017-07-01 Changed Code description changed.
2014-01-01 Changed Description Changed
2013-01-01 Changed Description Changed
2012-01-01 Added Added
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