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Genes
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Conditions
A
Achondroplasia
Acrodysostosis
Acrofacial dysostosis
Acromelic frontonasal dysostosis
Adams-Oliver syndrome
Adrenaleukodystrophy
Adrenomyeloneuropathy
Agammaglobulinemia
Aicardi-Goutieres syndrome
Alagille
Alpha Thalassemia Intellectual disability syndrome
Alpha-methylacetoacetic aciduria
Alport syndrome
Alstrom
Alveolar capillary dysplasia
Angelman syndrome
Antley-Bixler syndrome
Aortic aneurysm
Apert syndrome
Arterial tortuosity syndrome
Arthrogryposis
Ataxia-telangiectasia
ATR-16 syndrome
Atypical hemolytic uremic syndrome
Auriculocondylar syndrome
Auto-inflammatory disease
Autoimmune disorder
Autoimmune disorder Lymphoproliferative syndrome
B
Bainbridge-Ropers syndrome
Bardet-Biedl syndrome
Bart-Pumphrey syndrome
Biotinidase deficiency
Birt-Hogg-Dube syndrome
Bohring-Opitz syndrome
Borjeson-Forssman-Lehmann syndrome
Brachydactyly
Branchiootic
Branchiootorenal
Buschke-Ollendorff syndrome
C
C syndrome
CADASIL
Cardiofaciocutaneous syndrome
Carpenter syndrome
Cat eye syndrome
Cerebral creatine deficiency
Cerebrocostomandibular syndrome
Charcot-Marie-Tooth syndrome type 1A
CHARGE syndrome
Chitayat syndrome
Cholestasis
Cholestasis Gallbladder disease
CHOPS syndrome
Chronic granulomatous disease
Citrullinemia
Cohen syndrome
Complement deficiency
Comprehensive Pulmonary Vascular Disease
Congenital bile acid synthesis defect
Connective Tissue Disorders
Contractural arachnodactyly
Cornelia de Lange
Craniofacial disorder
Craniofrontonasal dysplasia
Craniosynostosis
Cri du Chat Syndrome
Crouzon syndrome
Cutis laxa
Cystic fibrosis
D
Deafness
Demirhan type acromesomelic dysplasia
Diabetes mellitus
Diarrhea
DiGeorge syndrome
Dubin-Johnson syndrome
Dystonia
E
Early infantile epileptic encephalopathy
Ehlers-Danlos syndrome
Ellis-van Creveld syndrome
Emberger syndrome
Epilepsy
Epilepsy Seizures
F
Familial hypercholanemia
Familial thoracic aortic aneurysm
Fanconi-Bickel syndrome
Feingold syndrome
Fever
Fibrochondrogenesis
Fragile X
Frontonasal dysplasia
Fructose-1 6-bisphosphatase deficiency
G
Galactokinase deficiency
Galactosemia
Glucose galactose malabsorption
GLUT1 deficiency
Glycogen storage disease
Glycogen storage disease IIIb
Greig cephalopolysyndactyly syndrome
H
Hearing loss
Hereditary hemorrhagic telangiectasia
Hereditary Liability to Pressure Palsies
Homocystinuria
Hydranencephaly with abnormal genitalia
Hyperbilirubinemia
Hypercholesterolemia
Hyperhomocysteinemic
Hyperinsulinemic hypoglycemia
Hyperinsulinism
Hyperparathyrdism
hypertension
Hypobetalipoproteinemia
Hypocalcemia
Hypocalciuric hypercalcemia
Hypogonadotropic hypogonadism
Hypophosphatasia
I
Immunodeficiency
Immunodeficiency with hyper-IgM type 2
Intellectual disability
Intellectual disability-hypotonic facies syndrome
intellectual disabillity
J
Joubert syndrome
K
Kabuki syndrome
KBG syndrome
Ketotic Hypoglycemia
Kleefstra syndrome
Koolen de Vries syndrome
Kyphoscoliosis
L
Langer mesomelic dysplasia
Legius syndrome
Leopard syndrome
Leri-Weill dyschondrosteosis
Loeys-Dietz syndrome
Lung disease
Luscan-Lumish syndrome
Lymphoproliferative
Lymphoproliferative syndrome
Lysinuric protein intolerance
M
Macular degeneration
Mandibulofacial dysostosis
Maple syrup urine disease
Marfan syndrome
Marshall syndrome
Maturity onset diabetes of the young
McCune-Albright syndrome
Mental retardation
Miller syndrome
Miller-Dieker syndrome
Mitochondrial DNA depletion syndrome
Mowat-Wilson syndrome
MSUD
Multiple joint dislocations and short stature and Craniofacial disorder dysmorphism with or without congenital heart defects
Multisystemic smooth muscle dysfunction syndrome
Myelodysplastic syndrome
Myelokathexis
N
Neonatal respiratory distress
Nephronophthisis
Neurodegeneration
Neutopenia
Niemann-Pick disease
Noonan syndrome
O
Obesity
Odontohypophosphatasia
Omenn syndrome
Opitz GBBB syndrome
Osteogenesis imperfecta
Osteolysis
Osteopathia striata
Osteopetrosis
P
Pancreatitis
Parietal foramina
Partial adenosine deaminase deficiency
Partington syndrome
Pfeiffer syndrome
Phelan-Mcdermid syndrome
Phenylketonuria
Pitt-Hopkins like syndrome
PKU
Pneumothorax
Polyarteritis nodosa
Potocki-Lupski syndrome
Potocki-Shaffer syndrome
Prader-Willi syndrome
Primary ciliary dyskinesia
Proud syndrome
proximal 11p deletion syndrome
Pulmonary
Pulmonary disease
Pulmonary hypertension
Pulmonary surfactant metabolism dysfunction
Pulmonary Vascular
Pulmonary vascular disease
Pulmonary venoocclusive disease
Pyncnodysostosis
Pyroxidine-dependent Epilepsy
R
Raine syndrome
Renal cysts and diabetes (RCAD)
Rett syndrome
Rett syndrome variant
Rubinstein Taybi syndrome
S
Saethre-Chotzen syndrome
Schaaf-Yang syndrome
Schuurs-Hoeijmakers syndrome
Seizures
Severe combined immunodeficiency
Severe combined immunodeficiency due to ADA deficiency
short stature
Shprintzen Goldberg
Sideroblastic anemia
Smith-McGinnis
Spinal Muscular Atrophy
Stickler syndrome
Sucrase isomaltase deficiency
T
Thrombocytopenia
Townes-Brocks syndrome
Treacher Collins syndrome
Trichohepatoenteric syndrome
V
Vascular disease
Vascular lung disease
Velocardiofacial syndrome
W
Waardenburg syndrome
WAGR syndrome
Weyers acrofacial dysostosis
WHIM syndrome
Williams syndrome
Wolf-Hirschhorn Syndrome
X
X-linked Intellectual disability
X-linked lissencephaly
Chromosomal Disorder
1
12p13.33 Microdeletion Syndrome
12q14 microdeletion syndrome
15q13.3 microdeletion syndrome
15q24 recurrent microdeletion syndrome
15q26 overgrowth syndrome
16p11.2 microduplication syndrome
16p11.2-p12.2 microdeletion syndrome
16p11.2-p12.2 microduplication syndrome
17p11.2 duplication syndrome
17p13.3 deletion syndrome
17q21.31 recurrent microdeletion syndrome
1p36 microdeletion syndrome
2
22q11 duplication syndrome
22q11.2 deletion syndrome
22q11.2 distal deletion syndrome
22q13 Deletion Syndrome
2p15-16.1 microdeletion syndrome
2p21 Microdeletion Syndrome
2q33.1 deletion syndrome
2q37 deletion syndrome
2q37 monosomy
3
3q29 microdeletion syndrome
3q29 microduplication syndrome
5
5p- syndrome