FSHD1 and FSHD2

Thank you for choosing the University of Iowa Diagnostic Lab for your FSHD1 and FSHD2 testing needs!

Please review the information below before submitting a specimen to UIDL for testing. Ready to send a sample?

Where to begin

Frequently asked questions

Select from the billing directives below to confirm pricing and the appropriate CPT codes relevant to your billing selection:

We realize it’s not always feasible to fully vet insurance before collecting a sample, so you can direct the UIDL to process and hold the specimen until your institution completes this process:

screenshot of the process and hold section of the fshd requisition
  • Upon specimen receipt, UIDL will process and hold the specimen to allow the Referring Institution time to vet insurance.
  • Testing will not begin, and the sample will remain on a billing hold until the Referring Institution contacts the UIDL Reference Billing team via email (UIDLReferenceBilling@healthcare.uiowa.edu) or phone (319-353-7958) to confirm the billing directive and initiate testing.

Test orders will be cancelled after 6 months if the referring institution does not contact UIDL to initiate testing and confirm the billing directive.

Once insurance and billing directives are in place, please use the supply order request form.

The ABN for FSHD lab testing can be downloaded here. Please see Medicare Resources for additional ABN and Medicare billing details.

Please visit our prenatal FSHD testing FAQ. The prenatal FSHD testing requisition will need to be completed and sent with the specimen.

FSHD1 and FSHD2 process steps: quick reference

  1. Referring Institution confirms billing directives.
  2. If prepayment is necessary, designated payer and UIDL Billing will arrange payment.
  3. Once prepayment is received or confirmed unnecessary, the referring institution can request an FSHD sample collection kit by filling out the form below:

    Supply Order Form

  4. Patient and provider coordinate sample collection, and return the sample with a fully executed requisition, any applicable insurance information, and pertinent clinical history.
  5. Once any pre-authorizations, billing holds, or insurance discrepancies are resolved, UIDL performs testing and reports results.

Where to begin

To avoid testing delays, a billing directive should be established before a sample collection kit is requested.

In some cases, prepayment may be required, or commercial insurance may require prior authorization. Patients and/or referring physicians are responsible for vetting third-party payer coverage. This includes determining whether prior authorization is needed and if the patient has out-of-network laboratory benefits which will allow payment to the UIDL.

FSHD billing directives screenshot from the requisition

The UIDL FSHD1 and FSHD2 test requisition (previewed above) allows you to select from one of three billing directives.

Download FSHD Test Requisition

Expand the options below to review CPT codes, prepayment criteria, and details relevant to each option.

Billing directives:

This will direct UIDL to bill the referring institution directly for services upon test completion. Upon specimen receipt, UIDL will address any sample or requisition discrepancies and process the sample for testing.

If the referring institution is not located within the United States, prepayment is required unless previously approved by UIDL. Please contact UIDLReferenceBilling@healthcare.uiowa.edu to initiate approval.

Applicable CPT codes and client rates for the FSHD panel and individual panel components:

Test OrderCPTMaximum Charge
FSHD1 and FSHD2 PanelTechnical: 81404 (x1), 81479 (x2)
Professional: G0452 (x1)
$2,600.00
ComponentCPTTotal Charges
Optical Mapping - Determine allele size and haplotypingTechnical: 81404 (x1)
Professional: G0452 (x1)
$1,300.00
MethylationTechnical:81479 (x1)
Professional: G0452 (x1)
$714.00
NGS (SMCHD1LRIF1DNMT3B)Technical: 81479 (x1)
Professional: G0452 (x1)
$714.00

Pricing is subject to change.

Patients and/or referring physicians are responsible for vetting third-party payer coverage. This includes determining whether prior authorization is needed and if the patient has out-of-network laboratory benefits that will allow payment to UIDL.

UIDL TIN: 42-6004813
UIDL NPIs:

  • Technical: 1811984636
  • Professional: 1265433676

Applicable CPT codes and insurance rates for each FSHD panel component:

ComponentCPTInsurance Rate
Optical Mapping - Determine allele size and haplotypingTechnical: 81404 (x1)$1,534.00
MethylationTechnical: 81479 (x1)$879.00
NGS (SMCHD1LRIF1DNMT3B)Technical: 81479 (x1)$1,577.00
Professional InterpretationProfessional: G0452 (x1)$142.00

Pricing is subject to change.


Prior authorization details: 

When ordering individual panel components, especially optical mapping, UIDL recommends securing a prior authorization that includes all aspects of testing. If additional testing is required, having a prior authorization on file that includes all components will expedite result reporting and patient care.

If prior authorization is required, the prior authorization number will need to be included on the requisition with the specimen. UIDL will review the prior authorization and reach out to the billing contact to resolve any discrepancies before testing begins.

If prior authorization cannot be obtained and the referring institution declines financial responsibility for the charges:

  • Non-Iowa residents will be required to submit a prepayment. 
  • Iowa residents will receive a statement of charges from UIDL to the guarantor upon completion of testing.

United Healthcare Prior Authorization (PA): Three separate PAs are required to vet coverage. 

PA #1Detection of Abnormal Alleles (Optical Mapping)CPT 81404
PA #2Methylation StatusCPT 81479
PA #3NGS (SMCHD1, LRIF1, and DMNT3B)CPT 81479

Iowa residents will receive a statement of charges from the UIDL to the guarantor upon completion of testing.

If the patient is not an Iowa resident, prepayment is required.

Applicable CPT codes and self-pay rates for the FSHD panel and individual panel components:

Test OrderCPTMaximum Charge
FSHD1 and FSHD2 PanelTechnical: 81404 (x1), 81479 (x2)
Professional: G0452 (x1)
$2,600.00
ComponentCPTTotal Charges
Optical Mapping - Determine allele size and haplotypingTechnical: 81404 (x1)
Professional: G0452 (x1)
$1,300.00
MethylationTechnical:81479 (x1)
Professional: G0452 (x1)
$714.00
NGS (SMCHD1LRIF1DNMT3B)Technical: 81479 (x1)
Professional: G0452 (x1)
$714.00

Pricing is subject to change.

Additional helpful tips:

  • An order for the full FSHD1 and FSHD2 panel is not required; providers must be specific on the UIDL FSHD test requisition whether the full panel or individual components are requested.
    • Note, there will always be one professional charge irrespective of what test is ordered.
  • An order for a full panel may not require performance of all the components, and the UIDL will only bill for the work performed.
    • Please know that the amount of testing that will ultimately be performed on a specimen when an order for the full panel is requested cannot be determined prior to the start of the testing.
    • In general, the minimum amount of testing performed is optical mapping to determine allele sizes and haplotyping.

Please refer to FSHD diagnostic workflow for more detail.

Still have questions?

For billing and insurance related questions contact the UIDL Reference Billing team:

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