Nail-Patella Syndrome via the LMX1B 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
8581 LMX1B 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8581LMX1B81479 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

Nail-patella syndrome (NPS; OMIM# 161200) is a pleiotropic disorder affecting nails, the skeletal system, kidneys, and eyes. Clinical features include dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, iliac horns, nephropathy, and glaucoma (Sweeney et al., 2003; Sweeney et al., 2009; Bongers et al., 2005). Neurological and vasomotor symptoms are also within the phenotypic spectrum of NPS (Sweeney et al., 2003). Sensorineural hearing impairment has also been associated with NPS (Bongers et al., 2005). The clinical spectrum of NPS is wide and substantial phenotypic variability can occur even within the same family. NPS can be diagnosed at birth.

Genetics

Nail-patella syndrome is an autosomal dominant disorder caused by mutations in the LMX1B gene (Dreyer et al., 1998; McIntosh et al., 1998; Vollrath et al., 1998). LMX1B has 8 coding exons that encode the LIM-homeodomain transcription factor, which is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Clustered within the functional domains of the protein (LIM domains and the homeodomain), genetic defects of LMX1B include missense, nonsense, splicing site mutations, small deletion/insertions (Human Gene Mutation Database). Large deletions and duplications involving LMX1B have also been reported, but are relatively uncommon. Notably, transmission of a mutated LMX1B allele from mosaic unaffected parents to NPS patients has been reported (Marini et al., 2010).

Clinical Sensitivity - Sequencing with CNV PGxome

LMX1B mutations can be found via DNA sequencing in 80-85% of patients with Nail-patella syndrome (Sweeney et al., 2003; Marini et al., 2010).

Testing Strategy

This test provides full coverage of all coding exons of the LMX1B 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).

Indications for Test

Candidates for this test are patients with Nail-patella syndrome. Testing is also indicated for family members of patients who have known LMX1B mutations.

Gene

Official Gene Symbol OMIM ID
LMX1B 602575
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Nail-Patella Syndrome AD 161200

Citations

  • Bongers EMHF, Huysmans FT, Levtchenko E, Rooy JW de, Blickman JG, Admiraal RJC, Huygen PLM, Cruysberg JRM, Toolens PAMP, Prins JB, Krabbe PFM, Borm GF, et al. 2005. Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur. J. Hum. Genet. 13: 935–946. PubMed ID: 15928687
  • Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, Lee B. 1998. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat. Genet. 19: 47–50. PubMed ID: 9590287
  • Human Gene Mutation Database (Bio-base).
  • Marini M, Bocciardi R, Gimelli S, Duca M Di, Divizia MT, Baban A, Gaspar H, Mammi I, Garavelli L, Cerone R, Emma F, Bedeschi MF, et al. 2010. A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. Genet. Med. 12: 431–439. PubMed ID: 20531206
  • McIntosh I, Dreyer SD, Clough MV, Dunston JA, Eyaid W, Roig CM, Montgomery T, Ala-Mello S, Kaitila I, Winterpacht A, Zabel B, Frydman M, et al. 1998. Mutation analysis of LMX1B gene in nail-patella syndrome patients. Am. J. Hum. Genet. 63: 1651–1658. PubMed ID: 9837817
  • Sweeney E, Fryer A, Mountford R, Green A, McIntosh I. 2003. Nail patella syndrome: a review of the phenotype aided by developmental biology. J. Med. Genet. 40: 153–162. PubMed ID: 12624132
  • Sweeney E, Hoover-Fong JE, McIntosh I. 2009. Nail-Patella Syndrome. GeneReviews. PubMed ID: 20301311
  • Vollrath D. et al. 1998. Human Molecular Genetics. 7: 1091-8. PubMed ID: 9618165

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

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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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