What is gene testing?

Gene tests (also called DNA-based tests), the most sophisticated of the techniques used to test for genetic disorders, involve direct examination of the DNA molecule itself. Other genetic tests include biochemical tests for such gene products as enzymes and other proteins and for microscopic examination of stained or fluorescent chromosomes. Genetic tests are used for several reasons, such as:

  • carrier screening, which involves identifying unaffected individuals who carry one copy of a gene for a disease that requires two copies for the disease to be expressed
  • preimplantation genetic diagnosis
  • prenatal testing
  • newborn screening
  • presymptomatic testing for predicting adult-onset disorders such as Huntington’s disease
  • presymptomatic testing for estimating the risk of developing adult-onset cancers and Alzheimer’s disease
  • confirmational diagnosis of a symptomatic individual
  • forensic/identity testing
Gene Expression

Common Gene tests

There are approximately 900 types of genetic tests that can be performed, some of the most common examples are listed below:

  • Lupus
  • Graves’ disease
  • Celiac disease
  • Multiple sclerosis
  • Psoriasis
  • Macular degeneration
  • Alzheimer’s disease
  • Osteoarthritis
  • Rheumatoid arthritis
  • Bladder cancer
  • Breast cancer
  • Colorectal cancer
  • Gastric cancer
  • Lung cancer
  • Prostate cancer
  • Skin cancer

If there is a specific test you require please contact us.

Tests by type of disease

There are approximately 900 types of genetic tests that can be performed, some of the most common examples are listed below:

  • Alagille Syndrome
  • Alpha-1-Antitrypsin Deficiency
  • Angelman Syndrome
  • Angelman SEQUENCE
  • Angelman-like, X-linked, Syndrome
  • X-linked Mental Retardation
  • Ashkenazi Jewish
  • Atypical Rett Syndrome
  • Autism/Autism Spectrum Disorder
  • Beta Thalassemia
  • Canavan Disease
  • CHARGE Syndrome
  • Chromosomal Microarray
  • Congenital Central
  • Hypoventilation Syndrome
  • Congenital Hyperinsulinism
  • Cystic Fibrosis
  • Diamond-Blackfan Anemia
  • Dyskeratosis Congenita
  • Fabry Disease
  • Familial Hypercholesterolemia
  • Familial Hypocalciuric Hypercalcemia (FHH)
  • Gaucher Disease
  • Glutaric Acidemia Type 1
  • Glycogen Storage Disease Type Ia
  • Glycogen Storage Disease Type Ib
  • Hearing Loss, Aminoglycoside-Related
  • Hereditary Angioedema
  • Hereditary Hemorrhagic Telangiectasia
  • Hereditary Non-Polyposis Colorectal Cancer
  • Hunter Syndrome
  • Hurler Syndrome
  • Infantile Spasms
  • Interstitial Lung Disease
  • LEOPARD Syndrome
  • Gene Sequence Analysis
  • MODY
  • Multiple Endocrine Neoplasia Type 1
  • Multiple Endocrine Neoplasia Type 2
  • Neimann-Pick Disease Types A & B
  • Neonatal Diabetes
  • Neonatal Respiratory Failure
  • Noonan Syndrome
  • PALB2-Related Cancer
  • Pancreatitis
  • Peutz-Jeghers Syndrome
  • PKU (Phenylketonuria)
  • Pompe Disease GAA
  • Prader-Willi Syndrome
  • Primary Ciliary Dyskinesia
  • PTEN-Related Disorders
  • Pulmonary Arterial Hypertension
  • Pulmonary Fibrosis
  • Renal Cysts & Diabetes
  • RET-Related Hirschsprung Disease
  • Rett Syndrome
  • Shwachman-Diamond Syndrome
  • Sickle-Beta Thalassemia
  • Smith-Lemli-Opitz Syndrome
  • Surfactant Deficiency or Dysfunction
  • Tay-Sachs Disease
  • Transthyretin Amyloidosis
  • Von Hippel-Lindau Disease
  • Warfarin Sensitivity
  • Wilson Disease
  • X-Linked Mental Retardation

Additional tests are available.