Targeted XLID Gene Analysis

Flexible single gene analysis is available to meet the diversified genetic testing approach of individual physician and/or genetic counselor. 

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Flexible single gene analysis is available to meet the diversified genetic testing approach of individual physician and/or genetic counselor. 

The table below provides a brief summary of individual genes linked to X-linked intellectual disability with descriptive phenotype and gene function. Individual full gene and/or deletion duplication analysis can be ordered separately or in combination.

GENE(S) CLINICAL PHENOTYPE GENE FUNCTION
ARX 

Infantile spasms
X-linked lissencephaly
Agenesis of corpus collosum
Abnormal genitalia 

  • Transcriptional regulator active during neurogenesis
  • Located on Xp21.3, comprised of 5 exons with majority of mutations in exon 2

ATRX

Glioblastoma
Urogenital abnormalities 

  • In vitro studies show involvement in chromatin remodeling and regulation of gene expression
  • Located on Xq21.1 containing 35 exons 

CASK

Microcephaly
Hypotonia
Potocerebellar hypoplasia
Nystagmus 

  • Calcium/calmodulin-dependent serine protein kinase implicated in synaptic function
  • Located on Xp11.4 containing 27 exons

CUL4B

Short stature and obesity
Hypogonadism
Abnormal gait

  • Cullin-RING ubiquitin ligase complex active in cell cycle regulation and immune response
  • Located on Xq24 containing 22 exons
FMR2

Attention deficit disorder 
Learning disability 
Autistic like behavior 

  • FMR2 gene lies ~600 kb distal to the FMR1 gene known to cause Fragile X syndrome with full CCG repat expansion 
  • Located on Xq28 

L1CAM

Hydrocephalus
Adducted thumbs
Spastic paraplegia
Hirschsprung disease

  • Membrane glycoprotein mediates intercellular adhesion involved in neural function
  • Located on Xq28 containing 28 exons

NLGN3/NLGN4X

Pervasive developmental disorder
Impaired social interaction
Developmental delay

  • Cell-adhesion protein present on thepostsynaptic side implicated in remodeling of neuronal synapses
  • NLGN3 is located on Xq13 containing 7 exons
  • NLGN4X is located on Xp22.3 containing 6 exons 

PQBP1

Short stature
Anal atresia
Brachycephaly

  • Transcriptional regulator expressed in the CNS during embryogenesis
  • Located on Xp11.23 containing 7 exons

SLC16A2

Decreased T3 uptake
Muscle hypoplasia
Neurological difficulties 

  • Transmembrane protein responsible for transport of triiodothyronine into neurons
  • Located on Xq13.2

SYP

Epilepsy
Impaired adaptive behavior

  • Membrane protein associated with small synaptic vesicles in the brain and endocrine cells
  • Located on Xp11.23 containing 7 exons 

UPF3B

Macrocephaly
Tall stature, thin long face
High arched palate

  • Regulates nonsense transcript homolog B, involved in nonsense-mediated mRNA decay
  • Located on Xq25 containing 25 exons 

ZNF711/ZNF81

Uncharacterized developmental delay
Profound learning disability 

  • Transcription factors with Krupple-type zinc finger binding motif
  • ZNF711 is located on Xq21.1 containing 7 exons
  • ZNF81 is located on Xp11.23 containing 4 exons

 

Disease Name 
X-Linked Intellectual Disability
Specimen Requirements 

Blood Samples:
Container: Purple top EDTA tube (preferred) or yellow top citric acetate tube.
Amount: Adult 3-5 cc, pediatric 2 cc minimum.
Storage: 2-8°C. Do not freeze.
Shipment: Room temperature for two-day delivery.

DNA:
Container: Sterile plastic tube.
Amount: 5 μg of DNA in TE (10mM Tris-Cl pH 8.0, 1mM EDTA); preferred 200 μl at ~100 ng/μl conc.
Storage: -20°C.
Shipment: Shipment frozen on dry ice is preferred, or ship on ice.

Saliva:
Container: Oasis DNA Self Collection container.
Amount: 2 ml. 
Storage: At room temperature in sterile bag.

Shipment: Ship room temperature for two-day deliver

Turnaround Time 
Technique Days
Individual Gene Sequence Analysis  21-35
Specialty 
Genes