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Kenny-Caffey Syndrome Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10093 FAM111A 81479,81479 Order Options and Pricing
TBCE 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10093Genes x (2)81479 81479(x4) $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

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 backbone).

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

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Eric Bend, PhD

Clinical Features and Genetics

Clinical Features

Kenny-Caffey syndrome is classified into two types in terms of clinical phenotypes and corresponding genetic defects.

Kenny-Caffey syndrome Type 1 is an autosomal recessive disorder characterized by growth retardation, thickening of the long bones, medullary stenosis (thin marrow cavities) and dysmorphic features, and recurrent hypocalcemia due to hypoparathyroidism (Parvari et al. 2002). To date, this disease has been observed almost exclusively in the Middle East. Hypoparathyroidism-retardation-dysmorphism syndrome (HRD; also known as Sanjad-Sakati syndrome) is the allelic disorder of Kenny-Caffey syndrome Type 1.

Kenny-Caffey syndrome Type 2 is an autosomal dominant disorder characterized by impaired skeletal development (tiny bones with constricted medullary cavities, dysfunction of the cranial sutures, defective dentition and microphthalmia) and primary hypoparathyroidism with hypocalcemia (Unger et al. 2013). Osteocraniostenosis (OCS; also known as gracile bone dysplasia) is the allelic disorder of Kenny-Caffey syndrome Type 2, and is a perinatally lethal condition. Compared with Kenny-Caffey syndrome Type 1, Kenny-Caffey syndrome Type 2 and OCS present normal mentality, but commonly have ophthalmologic features (corneal and retinal calcifications and congenital cataracts).

Genetics

Kenny-Caffey syndrome Type 1 is an autosomal recessive disorder caused by TBCE pathogenic variants (Parvari et al. 2002). The TBCE gene (17 coding exons) encodes tubulin-folding cofactor E, a chaperone protein required for the proper folding of alpha-tubulin subunits and the formation of alpha-beta-tubulin heterodimers. TBCE pathogenic variants also cause HRD. Genetic defects documented to date in TBCE only include a nonsense variant and small deletions (Human Gene Mutation Database).

Kenny-Caffey syndrome Type 2 is an autosomal dominant disorder caused by FAM111A pathogenic variants (Unger et al. 2013). The FAM111A gene (2 coding exons) encodes a cell-cycle regulated protein which is crucial to parathyroid hormone production, calcium homeostasis, and skeletal development. FAM111A pathogenic variants also cause OCS. Known FAM111A pathogenic variants are clustered at the C-terminal of the encoded protein. Genetic defects documented to date in FAM111A include mostly missense, and a small in-frame deletion (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

The mutation detection rate of both TBCE and FAM111A in a larger cohort of patients with Kenny-Caffey syndrome is unknown in the literature because mutations have been reported only in limited cases. Analytical sensitivity should be high as the reported pathogenic variants are detectable by sequencing.

No large deletions or duplications hve been reported in either TBCE or FAM111A.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel provides 100% coverage of all coding exons of the genes 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 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 Kenny-Caffey syndrome (Type 1 or 2), hypoparathyroidism-retardation-dysmorphism syndrome, or osteocraniostenosis (OCS). This test especially aids in a differential diagnosis of similar phenotypes by analyzing two genes simultaneously.

Genes

Official Gene Symbol OMIM ID
FAM111A 615292
TBCE 604934
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

  • Human Gene Mutation Database (Bio-base).
  • Parvari R. et al. 2002. Nature Genetics. 32: 448-52. PubMed ID: 12389028
  • Unger S. et al. 2013. American Journal of Human Genetics. 92: 990-5. PubMed ID: 23684011

Ordering/Specimens

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


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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