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Acrocallosal, Fetal Hydrolethalus, and Joubert Syndromes via the KIF7 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
KIF7 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11031KIF781479 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


  • Fang Xu, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Joubert Syndrome (JS) is marked by hypotonia, abnormal ocular movements, neonatal respiratory difficulties, mental retardation, hypoplasia of the cerebellar vermis, and malformation of the brainstem. The brain malformations lead to the "molar tooth sign" on cranial MRI, which is the hallmark clinical feature of JS. Other variable JS features include cystic kidneys, nephronophthisis, retinal dystrophy, ocular coloboma, occipital encephalocele, polydactyly, ataxia, and hepatic fibrosis. For more information, see Parisi and Glass (2013) and Parisi et al. (2007). Fetal hydrolethalus syndrome (HLS) and acrocallosal syndrome (ACLS) have many clinical features that overlap with Joubert syndrome, such as midline-hindbrain malformations, facial abnormalities, and polydactyly (Putoux et al. 2011). Hydrolethalus syndrome is a lethal disorder characterized by hydrocephaly or anencephaly with a keyhole foramen magnum and, polydactyly of the hands and feet (Putoux et al. 2011). ACLS is characterized by macrocephaly, intellectual disabilities, hypertelorism, and polydactyly of the hands and feet.


JS, HLS and ACLS are inherited in an autosomal recessive manner. Homozygous or compound heterozygous mutations in the KIF7 gene are documented to cause JS, HLS and ACLS (Putoux et al. 2011; Putoux et al. 2012; Dafinger et al. 2011). JS is a heterogeneous genetic disorder caused by mutations in at least 20 genes, including KIF7 (Parisi and Glass 2013). KIF7 encodes for a cilia-associated protein that is a negative regulator of sonic hedgehog signaling (Liem et al. 2009). The majority of pathogenic variants reported to date are chain terminating mutations (nonsense, splicing and frameshift), although missense mutations in KIF7 have also been found in patients with ACLS and HLS.

Clinical Sensitivity - Sequencing with CNV PGxome

Pathogenic mutations in KIF7 were found in all 14 patients with ACLS (Putoux et al. 2011; Putoux et al. 2012). The clinical sensitivity of KIF7 mutations in patients with HLS and JS is unknown due to a small number of individual cases reported (Putoux et al. 2011; Dafinger et al. 2011).

No gross deletions/duplications have been reported in KIF7 (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the KIF7 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 ACLS, HS, or JS, and family members of patients who have known mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in KIF7.


Official Gene Symbol OMIM ID
KIF7 611254
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, Fabretti F, Janecke AR, Ebermann I, Nürnberg G, Nürnberg P, Zentgraf H, et al. 2011. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. Journal of Clinical Investigation 121: 2662–2667. PubMed ID: 21633164
  • Human Gene Mutation Database (Bio-base).
  • Liem KF, He M, Ocbina PJR, Anderson KV. 2009. Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling. Proceedings of the National Academy of Sciences 106: 13377–13382. PubMed ID: 19666503
  • Parisi M, Glass I. 2013. Joubert Syndrome and Related Disorders. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews(®), Seattle (WA): University of Washington, Seattle. PubMed ID: 20301500
  • Parisi MA, Doherty D, Chance PF, Glass IA. 2007. Joubert syndrome (and related disorders) (OMIM 213300). Eur. J. Hum. Genet. 15: 511–521. PubMed ID: 17377524
  • Putoux A, Nampoothiri S, Laurent N, Cormier-Daire V, Beales PL, Schinzel A, Bartholdi D, Alby C, Thomas S, Elkhartoufi N. 2012. Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. Journal of medical genetics 49: 713–720. PubMed ID: 23125460
  • Putoux A, Thomas S, Coene KLM, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, et al. 2011. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nature Genetics 43: 601–606. PubMed ID: 21552264


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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