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Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) Syndrome via the CTDP1 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
CTDP1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11217CTDP181479 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


  • Jamie Fox, PhD

Clinical Features and Genetics

Clinical Features

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder that affects multiple organs and tissues, generally during intra-uterine development. Primary diagnostic criteria includes bilateral congenital cataracts, which is the first and invariable presenting sign, microcornea, microphthalmos, micropupils, developmental delay, small stature and low weight, hypo/demyelinating neuropathy, mild facial dysmorphism (develops in late childhood), and mild hypogonadism. Additional features include mild cognitive deficit, cerebral and spinal cord atrophy on neuroimaging, post-infectious rhabdomyolysis, and osteoporosis (Kalaydjieva and Chamova 2014; Kalaydjieva 2006).


Autosomal recessive Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is caused by the homozygous founder mutation c.863+389C>T in an antisense Alu element in intron 6 of the CTDP1 gene (Varon et al. 2003; Lassuthova et al. 2014). RT–PCR and sequencing analysis have shown that this deep intronic sequence variant results in aberrant splicing and an insertion of 95 nucleotides of the Alu sequence in the processed CTDP1 transcript. Both the wild-type (WT) and mutant transcripts were present in all cells from individuals with CCFDN, indicating that the mutation causes partial deficiency. However, the levels of the WT transcript in cells from individuals with CCFDN were 15–35% of those in control cells. CTDP1 encodes the protein phosphatase FCP1, which is an essential component of the eukaryotic transcription machinery (Varon et al. 2003).

CTDP1 mutation screening in 887 unaffected population controls (105 non-Gypsy Europeans and 782 individuals of Gypsy ethnicity from Bulgaria representing 13 different Gypsy groups) found a 6.9% carrier rate among the Rudari, an average carrier rate of 0.6% in other Gypsy populations and a rate of 0.0% among non-Gypsy Europeans (Varon et al. 2003).

Clinical Sensitivity - Sequencing with CNV PGxome

The CTDP1 founder mutation (c.863+389C>T) carrier frequency is reported to be 6.9%, 0.6% and 0.0% among the Rudari, other Gypsy populations and non-Gypsy Europeans, respectively (Varon et al. 2003). In another study with 10 CCFDN affected children, all the affected individuals were homozygous for the CTDP1 founder mutation, which was not found in the 116 DNA control samples (Lassuthova et al. 2014).

Testing Strategy

This test provides full coverage of all coding exons of the CTDP1 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

All patients with symptoms suggestive of Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome are candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in CTDP1.


Official Gene Symbol OMIM ID
CTDP1 604927
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Kalaydjieva L, Chamova T. 2014. Congenital Cataracts, Facial Dysmorphism, and Neuropathy. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews(®), Seattle (WA): University of Washington, Seattle. PubMed ID: 20301787
  • Kalaydjieva L. 2006. Congenital cataracts-facial dysmorphism-neuropathy. Orphanet J Rare Dis 1: 32. PubMed ID: 16939648
  • Lassuthova P, Šišková D, Haberlová J, Sakmaryová I, Filouš A, Seeman P. 2014. Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children-frequent and underestimated cause of disability among Czech gypsies. Orphanet J Rare Dis 9: 46. PubMed ID: 24690360
  • Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochmüller H, Müllner-Eidenböck A, Merlini L, Neumann L, Bürger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L. 2003. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nature Genetics 35: 185–189. PubMed ID: 14517542


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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