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

Billing Codes 

 

TEST CODE TECHNIQUE
3140 ARX Gene Sequence Analysis 
4400 ATRX Gene Sequence Analysis
3180 CASK Gene Sequence Analysis 
3220 CUL4B Gene Sequence Analysis 
3020 FRAXE Gene Sequence Analysis 
4780 L1CAM Gene Sequence Analysis 
3380 NLGN3 Gene Sequence Analysis 
3400 NLGN4 Gene Sequence Analysis 
3440 PQBP1 Gene Sequence Analysis 
4260 SLC16A2 Gene Sequence Analysis 
3500 SYP Gene Sequence Analysis 
3540 UPF3B Gene Sequence Analysis 
3640 ZNF711 Gene Sequence Analysis 
3600 ZNF81 Gene Sequence Analysis 

 

 

 

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