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Focal Dermal Hypoplasia (FDH) via the PORCN 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
PORCN 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8239PORCN81479 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. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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

Focal dermal hypoplasia (also called Goltz syndrome or Goltz-Gorlin syndrome) is a multiorgan developmental disorder primarily affecting the skin and digits, eyes and teeth. Skin defects include congenital dermal atrophy, cutis aplasia; cutaneous soft, yellow-pink fat nodules, abnormal pigmentation and papillomas. The abnormal pigmentation usually follows the lines of Blaschko. Papillomas usually form around the nostrils, lips, anus, and female genitalia. Skeletal defects include oligodactyly, split hand and foot, syndactyly, and ectrodactyly. Ocular defects are anophthalmia and microphthalmia, coloboma in the iris and retina, and abnormal lacrimal duct. Craniofacial findings include asymmetry, notched nostrils, cleft lip and palate, and pointed chin. Almost 50% of affected patients have abnormal teeth mainly effecting enamel formation. Patients affected with FDH may also present syringocystadenoma papilliferum (Shaffer et al. 2009), a rare benign hamartomatous adnexal tumor originating from the apocrine or the eccrine sweat glands. Other FDH features include defects involving nails, hair, kidneys and the gastrointestinal system such as omphalocele and fused kidney. Approximately 15% of patients affected FDH present mental retardation.


FDH is an X-linked dominant condition caused by mutations in the PORCN gene. Approximately 90% of affected patients are females and 10% are males. 95% of female patients have a de novo mutation, and all live-born male patients are mosaic (Golz et al. 1992; Wang et al. 2007, Grzeschik et al. 2007; Sutton et al. 2013). One large deletion involving PORCN was documented in a patient affected with angioma serpiginosum (Houge et al. 2008), a rare benign congenital skin disorder characterized by nonpurpuric red punctate lesions following Blaschko lines.

PORCN protein coded by the PORCN gene is a putative O-acyltransferase enzyme that catalyzes cysteine N-palmitoylation and serine O-acylation in the endoplasmic reticulum. PORCN serves as a regulator of Wnt signal pathway during embryogenesis (Paller et al, 2007). To date, almost 100 unique pathogenic variants have been identified. They are: missense 22%, nonsense 24%, splicing 12%, small deletions and duplications 28% and gross deletions 14% (Human Gene Mutation Database; Lombardi et al. 2011). These pathogenic mutations were found in almost all coding exons, but not in exons 7 and 8 (Human Gene Mutation Database, Lombardi et al. 2011, Sutton et al. 2013). Three recurrent mutations were reported: c.370C>T (p.Arg124*); c.727C>T (p.Arg243*) and c.1094G>A (p.Arg365Gln) (Lombardi et al. 2011).

Clinical Sensitivity - Sequencing with CNV PGxome

PORCN pathogenic variants were detected in all three male patients and 10 out of 15 female patients who were clinically diagnosed or suspected to have FDH (Wang et al. 2007). In another study, PORCN pathogenic and likely pathogenic variants were detected in 22 out of 53 unrelated clinically diagnosed FDH patients (Fernandes et al. 2010).

Large deletions account for ~14% pathogenic variants found in the PORCN gene (Human Gene Mutation Database; Lombardi et al. 2011 Fernandes et al. 2009; Sutton et al. 2013).

Testing Strategy

This test provides full coverage of all coding exons of the PORCN 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 focal dermal hypoplasia and the family members of patients who have known PORCN mutations.


Official Gene Symbol OMIM ID
PORCN 300651
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Focal Dermal Hypoplasia XL 305600


  • Fernandes PH, Wen S, Sutton VR, Ward PA, Veyver IB Van den, Fang P. 2010. PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. Genet Test Mol Biomarkers 14: 709–713. PubMed ID: 20854095
  • Goltz RW. 1992. Focal dermal hypoplasia syndrome: An update. Arch Dermatol 128: 1108–1111. PubMed ID: 1497368
  • Grzeschik K-H, Bornholdt D, Oeffner F, König A, Carmen Boente M del, Enders H, Fritz B, Hertl M, Grasshoff U, Höfling K, Oji V, Paradisi M, et al. 2007. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nature Genetics 39: 833–835. PubMed ID: 17546031
  • Houge G, Oeffner F, Grzeschik K-H. 2008. An Xp11. 23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation. European Journal of Human Genetics 16: 1027–1028. PubMed ID: 18478042
  • Human Gene Mutation Database (Bio-base).
  • Lombardi MP, Bulk S, Celli J, Lampe A, Gabbett MT, Ousager LB, Smagt JJ van der, Soller M, Stattin E-L, Mannens MAMM, Smigiel R, Hennekam RC. 2011. Mutation update for the PORCN gene. Human Mutation 32: 723–728. PubMed ID: 21472892
  • Paller AS. 2007. Wnt signaling in focal dermal hypoplasia. Nature genetics 39: 820–821. PubMed ID: 17597772
  • Schaffer JV, Cantatore-Francis JL, Shin HT, Rosenman KS. 2009. Syringocystadenoma papilliferum in a patient with focal dermal hypoplasia due to a novel PORCN mutation. Arch Dermatol 145: 218–219. PubMed ID: 19221286
  • Sutton VR, Veyver IB Van den. 1993. Focal Dermal Hypoplasia. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle,. PubMed ID: 20301712
  • Sutton VR, Veyver IB Van den. 2013. Focal Dermal Hypoplasia. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle.
  • Wang X, Reid Sutton V, Omar Peraza-Llanes J, Yu Z, Rosetta R, Kou Y-C, Eble TN, Patel A, Thaller C, Fang P, Veyver IB Van den. 2007. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nature Genetics 39: 836–838. PubMed ID: 17546030


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