Bamforth-Lazarus Syndrome via the FOXE1 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
8833 FOXE1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8833FOXE181479 81479 $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.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

For Reflex to PGxome pricing click here.

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

For Sanger Sequencing click here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Bamforth-Lazarus syndrome is a congenital genetic disorder characterized by hypothyroidism due to thyroid dysgenesis, cleft palate and spiky hair. Some patients with this disease also present with bifid epiglottis and choanal atresia (Bamforth et al. 1989; Clifton-Bligh et al. 1998; Castanet et al. 2002; Baris et al. 2006). In an isolated case, porencephaly has also been reported (Sandal et al. 2013). Bamforth-Lazarus syndrome is very rare with a prevalence of < 1/1,000,000 (www.orpha.net).

Genetics

Bamforth-Lazarus syndrome is inherited in an autosomal recessive manner. Homozygous pathogenic variants in FOXE1 have been reported in several patients born from consanguineous marriages (Bamforth et al. 1989; Castanet et al. 2002; Baris et al. 2006). FOXE1 belongs to a family of forkhead box (FOX) transcription factors with a conserved winged-helix DNA-binding domain (Romanelli et al. 2003). Except for a gross deletion, all the reported pathogenic variants to date are missense and are clustered within the FOX domain (Human Gene Mutation Database), which is essential for gene transcription. FOXE1 regulates the expression of thyroglobulin (TG) and thyroid peroxidase (TPO) and plays important roles in the maintenance of thyroid function, including the production and secretion of thyroid hormones (Cuesta et al. 2007).

A heterozygous variant (p. Ala248Gly) in the FOXE1 gene has also been observed in a family with non-medullary thyroid carcinoma (FNMTC) (Pereira et al. 2015).

Testing Strategy

This test provides full coverage of all coding exons of the FOXE1 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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Clinical Sensitivity - Sequencing with CNV PGxome

It is difficult to estimate the clinical sensitivity of this test due to the lack of large cohort studies. Almost all the pathogenic variants reported to date in FOXE1 gene are detectable by sequencing.

It is difficult to estimate the clinical sensitivity of this test due to the lack of large cohort studies. To date, only one gross deletion has been identified involving FOXE1 (Human Gene Mutation Database).

Indications for Test

Patients with clinical symptoms consistent with Bamforth-Lazarus syndrome are candidates for this test. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in FOXE1.

Gene

Official Gene Symbol OMIM ID
FOXE1 602617
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Bamforth Syndrome AR 241850

Related Test

Name
Congenital Hypothyroidism and Thyroid Hormone Resistance Panel

Citations

  • Bamforth J.S. et al. 1989. Journal of Medical Genetics. 26: 49-51. PubMed ID: 2918525
  • Baris I. et al. 2006. The Journal of Clinical Endocrinology and Metabolism. 91: 4183-7. PubMed ID: 16882747
  • Castanet M. et al. 2002. Human Molecular Genetics. 11: 2051-9. PubMed ID: 12165566
  • Clifton-Bligh R.J. et al. 1998. Nature Genetics. 19: 399-401. PubMed ID: 9697705
  • Cuesta I. et al. 2007. Molecular and Cellular Biology. 27: 7302-14. PubMed ID: 17709379
  • Human Gene Mutation Database (Bio-base).
  • Pereira J.S. et al. 2015. Endocrine. 49: 204-14. PubMed ID: 25381600
  • Romanelli M.G. et al. 2003. Biochimica Et Biophysica Acta. 1643: 55-64. PubMed ID: 14654228
  • Sandal G. et al. 2013. Genetic Counseling. 24: 279-82. PubMed ID: 24341142

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.

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

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ORDER OPTIONS

View Ordering Instructions

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.

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