HumanaCommercial Clinical Policy

Humana Genetic Testing for Niemann-Pick Disease Form


Genetic Testing for Niemann-Pick Disease Type A and B (SMPD1 Gene)

Notes: State mandates for genetic testing for NPD may override this policy.

Indications

(217768) Has pre- and post-test genetic counseling been provided to the patient? 
(217769) Does the patient have enzymatically confirmed acid sphingomyelinase (ASM) deficiency? 
(217770) Is the patient of Ashkenazi Jewish ancestry, and if so, has targeted mutation analysis of the pathogenic variants (delta R608, fsP330, L302P, R496L) been completed with no mutation identified, followed by SMPD1 sequencing? 

Contraindications

(217771) Is the genetic testing for SMPD1 gene deletion/duplication analysis being requested? 

Genetic Testing for Niemann-Pick Disease Type C (NPC1 and NPC2 Genes)

Notes: State mandates for genetic testing for NPD may override this policy.

Indications

(217772) Has pre- and post-test genetic counseling been provided to the patient? 

YesNoN/A
YesNoN/A
YesNoN/A

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Effective Date

12/14/2023

Last Reviewed

NA

Original Document

  Reference



Genetic Testing for Niemann-Pick Disease

Medical Coverage Policy

Effective Date: 12/14/2023
Revision Date: 12/14/2023
Review Date: 12/14/2023
Policy Number: HUM-0606-003

Change Summary: Updated References

Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing.

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