Kenny-Caffey Syndrome Type 2 via the FAM111A 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
8561 FAM111A 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8561FAM111A81479 81479(x2) $890 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 backbone).

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

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

For Sanger Sequencing click here.

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 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 2 is an autosomal dominant disorder caused by FAM111A 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 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 variants and a small in-frame deletion (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

The mutation detection rate of FAM111A in a large cohort of patients with Kenny-Caffey syndrome Type 2 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 have been reported to date in FAM111A.

Testing Strategy

This test provides full coverage of all coding exons of the FAM111A 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 Kenny-Caffey syndrome Type 2 or osteocraniostenosis (OCS).

Gene

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

Diseases

Name Inheritance OMIM ID
Gracile Bone Dysplasia AD 602361
Kenny-Caffey Syndrome Type 2 AD 127000

Related Tests

Name
Hypomagnesemia Panel
Hypoparathyroidism Panel

Citations

  • Human Gene Mutation Database (Bio-base).
  • 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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