Medi-Cal Prenatal Genetic Carrier Screening (B)
Client
Bulletin
Reviewed March 2024
Medi-Cal Prenatal Genetic Carrier Screening
According to the Molecular Pathology section of the Medi-Cal General Medicine provider manual,
prenatal genetic carrier screening is reimbursable for certain analyses of spinal muscular atrophy and
cystic fibrosis. Reimbursable tests include CPT-4 code 81329, SMN1 (survival of motor neuron 1,
telomeric) gene analysis; dosage/deletion analysis, includes SMN2 (survival of motor neuron 2,
centromeric) analysis, if performed; and CPT-4 code 81220, CTFR (cystic fibrosis transmembrane
conductance regulator.
As referenced in the Medi-Cal policy, when CPT code 81220 and 81329 are used to bill for the purpose
of cystic fibrosis and spinal muscular atrophy screening respectively, providers must document in the
diagnosis field one of the following ICD-10-CM diagnosis codes:
CPT Code Description
81220
CFTR (cystic fibrosis
transmembrane
conductance regulator)
gene analysis; common
variants
81329
SMN1 (survival of motor
neuron 1, telomeric)
gene analysis;
dosage/deletion
analysis, includes SMN2
(survival of motor neuron
2, centromeric) analysis,
if performed
TAR
Required
NO
TAR and/or Billing Requirements
Frequency
When used to bill for cystic-fibrosis
screening:
Once-in-alifetime
O09.00 thru O09.93, Z31.430, Z31.440,
Z31.5, Z34.00 thru Z34.03, Z34.80 thru
Z34.83, Z34.90 thru Z34.93
NO
TAR- treatment authorization request
One of the following ICD-10-CM diagnosis
codes is required on the claim (except with
valid TAR):
O09.00 thru O09.93, Z31.430, Z31.440,
Z31.5, Z34.00 thru Z34.03, Z34.80 thru
Z34.83, Z34.90 thru Z34.93
Once-in-alifetime
except with
valid TAR
override
Medi-Cal Prenatal Genetic Carrier Screening
The Genetic Counseling and Screening section of the Medi-Cal policy also states that the following
conditions apply to cystic fibrosis screening:
?
Fetal testing is reimbursable using the recipient¡¯s Medi-Cal identification number if ¡°fetal
specimen¡± and medical justification are documented.
?
Cystic fibrosis screening is reimbursable for the father only if he is a Medi-Cal recipient.
Providers must document on the claim ¡°patient screen positive/partner sample,¡± his recipient
number, and ICD-10-CM code Z31.440, or the claim will be denied.
?
CPT-4 code 81220 (CTFR) is reimbursable for Presumptive Eligibility recipients with aid code
7G.
Cystic fibrosis screening is a once-in-a-lifetime procedure which cannot be overridden with a treatment
authorization request (TAR).
SMA screening is also a once-in-a-lifetime procedure except with a valid TAR.
For additional information on the above policies, please refer to the Genetic Counseling and Screening
section, the Molecular Pathology section of the General Medicine provider manual available at medical.publications.
If you have any questions, please contact your Quest Diagnostics sales representative
The above information serves as a reference tool for laboratory services and is not comprehensive. The ordering provider is
responsible for determining the appropriate diagnosis codes for each patient. Diagnosis codes must be applicable to the
patient¡¯s symptoms or conditions and must be consistent with documentation in the patient¡¯s medical record.
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole
responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
This material is intended for healthcare professionals in the United States.
Quest, Quest Diagnostics, any associated logos, and all associated Quest Diagnostics registered or unregistered trademarks
are the property of Quest Diagnostics. All third-party marks¡ª? and ?¡ªare the property of their respective owners. ? 2021
Quest Diagnostics Incorporated. All rights reserved 2/2021.
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