METHOD KEY

  • Sequencing with CNV
    PGxome
  • Sequencing with CNV
    PG-Select
  • CNV via aCGH
  • Sanger Sequencing
  • MLPA
  • Repeat Expansion
  • Other

Intellectual Disability

Intellectual Disability (ID) refers to significant impairment of cognitive and adaptive development (IQ<70) due to abnormalities of brain structure and/or function (American Association of Intellectual and Developmental Disabilities, AAIDD). ID is not a single entity, but rather a general symptom of neurologic dysfunction that is diagnosed in ~1-3% of the worldwide population (Kaufman et al. 2010. PubMed ID: 21124998; Vissers et al. 2016. PubMed ID: 26503795; Wang et al. 2020 PubMed ID: 3249945). Genetic and non-genetic factors (for example, congenital infections, prenatal exposures, trauma) all contribute to the etiology of ID (Sabo et al. 2020. PubMed ID: 32767738). Our expert PhD team has meticulously crafted the intellectual disability genetic test menu to assist in diagnosis and potential treatment of ID.

CMA

Autism Spectrum Disorders

BBB Syndrome

Bardet-Biedl Syndrome

Brain Malformations

Coffin-Siris Syndrome

Cornelia de Lange Syndrome

Craniosynostosis

Developmental Delay

Epilepsy

Facial Dysostosis Related Disorders

Floating-Harbor Syndrome

Fragile X Syndrome

Fraser Syndrome

Glycosylphosphatidylinositol Biosynthesis Def

Intellectual Disability

Joubert and Meckel-Gruber Syndromes

Macrocephaly

Opitz G

Prader-Willi Syndrome

Premature Ovarian Failure (POF1)

Rett Syndrome

Rett Syndrome, Angelman Syndrome and Variant Syndromes

Rubinstein-Taybi Syndrome

Smith-Lemli-Opitz Syndrome

Thyroid Hormone Resistance

METHOD KEY

  • Sequencing with CNV
    PGxome
  • Sequencing with CNV
    PG-Select
  • CNV via aCGH
  • Sanger Sequencing
  • MLPA
  • Repeat Expansion
  • Other