CPT® Code 81400

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

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.