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Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) via the FAM111B Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
FAM111B 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8351FAM111B81479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

POIKTMP is characterized by mottled pigmentation, telangiectasia, and epidermal atrophy along with tendon contracture, myopathy, and progressive pulmonary fibrosis. Abnormal skin pigmentation and telangiectasia usually occur during early childhood mainly on the face following sun exposure. These skin lesions will be improved with time; however, the extra cutaneous lesions may become worse. Patients may develop tendon contractures and pulmonary fibrosis during the second decade of life. In addition, some patients may have heat intolerance, reduced sweating, thin hair, and lymphoedema of low or upper extremities (Mercier et al. 2013; Mercier et al. 2015). POIKTMP may be clinically misdiagnosed as Rothmund-Thomson syndrome due to the overlapping clinical presentation such as abnormal skin pigmentation and telangiectasia, particular during the first year of life. Rothmund-Thomson syndrome is caused by pathogenic variants in RECQL4.


FAM111B-related POIKTMP is inherited in an autosomal dominant manner. The FAM111B protein coded by the FAM111B gene contains a trypsin-like cysteine/serine peptidase domain with unknown function. Only 5 unique missense variants were reported in 15 patients from 10 POIKTMP families, Almost 50% of these pathogenic variants occur de novo. The c.1879A>G (p.Arg627Gly) variant was observed in three families, and the 1883G>A (p.Ser628Asn) variant was found in 4 families (Mercier et al. 2013; Mercier et al. 2015). In addition, one small deletion leading to an in-frame deletion of one amino acid was reported in patients from one family affected with autosomal dominant exocrine pancreatic dysfunction (Seo et al. 2015).

Clinical Sensitivity - Sequencing with CNV PGxome

One study reported that FAM111B pathogenic variants were found in all patients from 10 studied families (Mercier et al. 2015). The mutation detection rate by sequencing should be high, because all reported pathogenic variants are missense or small deletion.

Testing Strategy

This test provides full coverage of all coding exons of the FAM111B gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates for this test are patients with symptoms consistent with POIKTMP, and the family members of patients who have known FAM111B pathogenic variants.


Official Gene Symbol OMIM ID
FAM111B 615584
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Mercier S. et al. 2013. American Journal of Human Genetics. 93: 1100-7 PubMed ID: 24268661
  • Mercier S. et al. 2013. American Journal of Human Genetics. 93: 1100-7.
  • Mercier S. et al. 2015. Orphanet Journal of Rare Diseases. 10: 135 PubMed ID: 26471370
  • Seo A. et al. 2015. Pancreas. 0: N/A. PubMed ID: 26495788


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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View Ordering Instructions

1) Select Test Method (Platform)

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2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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