GATLUCAX

Our most complete and affordable genetic testing

>45000

Clinical variants across all chromosomes and mitochondrial DNA

>4000

Pharmacogenetic markers with potential guidelines to optimize drug therapy

5

Genetic disease categories affecting individuals at all ages

Image by Ashton Bingham

GATLUCAX as the name indicates is our most cost-effective solution to give patients and clinicians a clear and actionable genetic testing. It covers 45K variations from 3000 genes that are known to be disease associated and curated from databases such as OMIM, HGMD and ClinVar.
The aim is to identify the molecular basis of a genetic disorder in individuals with a genetically heterogeneous disease and/or an atypical presentation of a genetic disorder.

As GATLUCAX has a genome wide coverage of all chromosomes and mitochondrial genome, it covers a broad range of genetic diseases catogories such as :

  • Metabolic diseases

  • Neurological diseases

  • Cardiovascular diseases

Image by Robina Weermeijer
Image by CDC

GATLUCAX is performed by next generation microarry which makes it affordable screening option with

  • Coverage of deep intronic and promoter pathogenic mutations based on HGMD and ClinVar

  • Targeted CNV detection: Additional probes in the intronic regions in 668 genes previously reported in publications

  • Probes designed based on multiple gene models

  • Coverage of mitochondrial genome

  • Phenotype based analysis, using GATomics developed proprietary tool

  • Latest analysis pipeline using GRCh38.p13 assembly

Some of common inherited monogenic diseases included in GATLucax
 

  • ARSACS (Autosomal recessive spastic ataxia of Charlevoix-Saguenay)

  • Acute intermittent porphyria

  • Agenesis of the Corpus Callosum with Peripheral Neuropathy (ACCPN)

  • Alpha-1 Antitrypsin Deficiency

  • Alpha-mannosidosis

  • Autosomal recessive polycystic kidney disease

  • Beta Thalassemia

  • Biotinidase deficiency

  • Birt-Hogg-Dube syndrome

  • Bloom syndrome

  • Brugada Syndrome

  • Canavan Disease

  • Classical homocystinuria due to CBS deficiency

  • Complete achromatopsia (type 2) and Incomplete achromatopsia

  • Congenital disorder of glycosylation type 1a (PMM2-CDG)

  • Congenital muscular α-dystroglycanopathy and Walker-Warburg syndrome

  • Congenital myasthenic syndrome

  • Congenital stationary night blindness 1C

  • Cystic fibrosis

  • Cystinosis

  • D-Bifunctional Protein Deficiency

  • Diastrophic dysplasia

  • Dihydrolipoamide Dehydrogenase Deficiency

  • Dilated Cardiomyopathy 1A

  • Dubin-Johnson syndrome

  • Ehlers-Danlos Syndrome (EDS)

  • Familial Hypercholesterolemia 

  • Familial Hypertrophic Cardiomyopathy (HCM)

  • Familial Mediterranean fever

  • Familial Transthyretin Amyloidosis

  • Familial adenomatous polyposis

  • Familial advanced sleep phase disorder (FASPS)

  • Familial dysautonomia (Riley-Day syndrome)

  • Familiar hyperinsulinism (ABCC8-related)

  • Fanconi Anemia (FANCC-related)

  • GRACILE syndrome

  • Gaucher disease

  • Glucose-6-phosphate dehydrogenase deficiency(G6PD deficiency)

  • Glutaric Acidemia type 1

  • Glutaric Acidemia type 2

  • Glycogen storage disease type 1A (Von Gierke Disease)

  • Glycogen storage disease type 1B

  • Glycogen storage disease type 2 or Pompe Disease 1 & 2

  • Glycogen storage disease type 3

  • Glycogen storage disease type 5

  • Hemophilia A NEW

  • Hereditary Breast and Ovarian Cancer

  • Hereditary fructose intolerance

  • Hereditary hemochromatosis associated with HFE

  • Homocystinuria due to MTHFR deficiency NEW

  • Hypokalemic Periodic Paralysis

  • Hypophosphatasia

  • Junctional Epidermolysis Bullosa

  • Leigh Syndrome, French-Canadian type (LSFC)

  • Leukoencephalopathy with vanishing white matter

  • Li-Fraumeni Syndrome

  • Limb-girdle muscular dystrophy

  • Malignant Hyperthermia

  • Maple syrup urine disease type 1B

  • Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)

  • Metachromatic leukodystrophy

  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

  • Mucolipidosis IV

  • Mucolipidosis type II

  • Multiple endocrine neoplasia 2B

  • Neuronal Ceroid-Lipofuscinoses type 1 (associated to PPT1)

  • Neuronal Ceroid-Lipofuscinoses type 3 (associated to CLN3)

  • Neuronal Ceroid-Lipofuscinoses type 5 (associated to CLN5)

  • Neuronal Ceroid-Lipofuscinoses type 6 (associated to CLN6)

  • Neuronal Ceroid-Lipofuscinoses type 7 (associated to MFSD8)

  • Niemann-Pick disease type A

  • Non-syndromic mitochondrial hearing loss

  • Nonsyndromic Hearing Loss and Deafness, DFNB1

  • Pendred syndrome

  • Peters plus syndrome

  • Phenylketonuria

  • Pontocerebellar hypoplasia

  • Primary hyperoxaluria type 1 (PH1)

  • Primary hyperoxaluria type 2 (PH2)

  • Pyridoxine-dependent epilepsy

  • Refsum disease

  • Retinitis pigmentosa

  • Rhizomelic Chondrodysplasia Punctata Type 1

  • Salla Disease

  • Short chain acyl-CoA dehydrogenase deficiency (SCADD)

  • Sjögren-Larsson syndrome

  • Spinal muscular atrophy

  • Tay-Sachs disease

  • Type 1 Oculocutaneous albinism (tyrosinase negative)

  • Type 2 oculocutaneous albinism (tyrosinase positive)

  • Tyrosinemia type I

  • Usher syndrome

  • Very long chain acyl-CoA dehydrogenase deficiency (VLCADD)

  • Wilson disease

  • Zellweger syndrome

  • cblA Type Methylmalonic aciduria

  • cblB Type Methylmalonic aciduria