NextGen Tests Condition Summary

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Conditions Associated with SIDS 

Condition Treatment NextGen Baby NextGen Baby+ NextGen Kids NextGen Adult
Long QT Syndrome Medication and avoiding QT prolonging medications yes yes yes yes
Brugada Syndrome Avoiding certain drugs can prevent cardiac arrest, implantable defribrillator yes yes yes yes
Familial Wolff-Parkinson-White Syndrome Medication, ablation therapy, some medication absolutely contraindicted yes yes yes
 

Life Threatening Conditions

Condition Treatment NextGen Baby NextGen Baby+ NextGen Kids NextGen Adult
Tyrosinaemia Type I Nitisinone and low protein diet >90% survival yes yes yes yes
Ornithine Transcarbamylase (OTC) Deficiency Nitisinone and low protein diet & liver transplant yes yes yes yes
X-linked Severe Combined Immunodeficiency (SCID) Bone marrow transplant < 3 months 94% survival yes yes yes
Adenosine Deaminase Deficiency Bone marrow transplant < 3 months 94% survival yes yes yes
Interleukin 7 Receptor Alpha Deficiency (IL7-SCID) Bone marrow transplant < 3 months 94% survival yes yes yes
Hereditary Fructose Intolerance Fructose free diet yes yes yes
X-Linked Adrenal Hypoplasia Congenita Medication yes yes yes
Familial Hemophagocytic Lymphohistiocytosis Bone marrow transplant yes yes yes
Citrullinaemia Type I Diet and liver transplant yes yes yes
LCHAD deficiency (Long-chain 3 hydroxyacyl-CoA Dehydrogenase Deficiency) Dietary yes yes
Maple Syrup Urine Disease Can cause coma in infancy yes yes yes
Systemic Primary Carnitine Deficiency Vitamin supplementation yes yes yes
 

Conditions Causing Intellectual Disability

Condition Treatment NextGen Baby NextGen Baby+ NextGen Kids NextGen Adult
X-Linked Adrenoleukodystrophy (X-ALD) Stem cell transplant in boys with early stage cerebral disease improves survival and steroid replacement therapy can be lifesaving yes yes yes yes
Biotinidase Deficiency Biotin can prevent complications yes yes yes yes
Mucopolysaccharidosis type I (MPS I) Bone marrow transplant can improve survival when done before complications arise yes yes yes yes
Arginase Deficiency Medication and low protein diet yes yes yes yes
Mucopolysaccharidosis type II (MPS II) Enzyme replacement therapy effective for some types (not neurological features) yes yes yes yes
Krabbe Disease Stem cell transplant improves lifespan and functional abilities yes yes yes yes
Galactosaemia Type I Lactose free diet can prevent complications yes yes yes yes
Glycine Encephalopathy (Non-Ketotic Hyperglycinemia) Medication yes yes yes
Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type A & B) Supportive not curative treatment, avoiding contact sport that could cause trauma to enlarged liver/ spleen yes yes yes
Arylsulfatase A deficiency (Metachromatic Leukodystrophy) Bone marrow transplant may be effective if done before symptoms appear yes yes yes
Hexosaminidase A Deficiency (Tay-Sachs disease) Supportive not curative yes
Hexosaminidase A and B Deficiency (Sandhoff Disease) Supportive not curative yes
Mucopolysaccharidosis type IIIA (Sanfilippo Syndrome type A) Supportive not curative yes
Mucopolysaccharidosis type IIIB (Sanfilippo Syndrome type B) Supportive not curative yes
GM1 gangliosidosis (Beta-Galactosidase-1 Deficiency) Experimental not curative yes
Neuronal Ceroid Lipofuscinosis: CLN1, 2 & 3 (Batten Disease) Enzyme replacement therapy yes yes yes
Dicarboxylic Aminoaciduria Low protein diet yes yes yes
Phenylketonuria (PKU) Dietary yes yes yes
Methylmalonic Acidaemia with Homocystinuria Diet and vitamin supplementation yes yes yes
Methylmalonic Acidaemia Diet and medication yes yes yes
Classical Homocystinuria Diet and vitamin supplementation yes yes yes
SCN1A- seizure disorders Parental education & avoid specific anti epileptics, triggers & swimming alone etc yes yes yes
 

Conditions Causing Heart Disease

Condition Treatment NextGen Baby NextGen Baby+ NextGen Kids NextGen Adult
Familial Hypercholesterolaemia (FH) Low fat diet, medication yes yes yes yes
Fabry Disease Enzyme replacement therapy (uncertain benefit for cardiac and renal and neurologic disease which occurs later) yes yes yes yes
Gaucher Disease Enzyme replacement therapy effective for some subtypes (not neurological features) yes yes yes yes
Pompe Disease Enzyme replacement therapy prolongs survival when started before 6 months yes yes yes yes
Autosomal Recessive Polycystic Kidney Disease Kidney or liver transplant can prolong life yes yes yes
Mucopolysaccharidosis type VI (Maroteaux Lamy Syndrome) Enzyme replacement therapy can improve quality of life yes yes yes
Cystinosis Cystine-depleting agents yes yes yes
 

Conditions causing liver or lung disease

Condition Treatment NextGen Baby NextGen Baby+ NextGen Kids NextGen Adult
Niemann-Pick Disease Type C1 Medication (Miglustat) may prevent developmental problems yes yes yes
Type 1 Hereditary Haemochromatosis Venesection, avoid alcohol yes yes yes
Cystic Fibrosis Medication, lung transplant yes yes yes
 

Problems with growth or development

Condition Treatment NextGen Baby NextGen Baby+ NextGen Kids NextGen Adult
Wilson Disease Medication yes yes yes yes
Hartnup Disease High protein diet, avoidance of certain medications & sunlight yes yes yes yes
Mucolipidosis II (Inclusion Cell Disease) Supportive not curative yes
Mucolipidosis III alpha/beta (Pseudo- Hurler Polydystrophy) Supportive not curative yes
Mucopolysaccharidosis type IVA (Morquio Syndrome Type A) Enzyme replacement therapy can improve quality of life yes yes yes
Mucopolysaccharidosis Type IVB (Morquio Syndrome Type B) Experimental not curative yes
Holocarboxylase Synthetase Deficiency (Infantile Multiple Carboxylase Deficiency) Vitamin supplementation yes yes yes
Isovaleric Acidaemia Diet and vitamin supplementation yes yes yes
Glutaric Acidaemia Type I Diet and vitamin supplementation yes yes yes
 

Rare forms of diabetes and cataracts

Condition Treatment NextGen Baby NextGen Baby+ NextGen Kids NextGen Adult
Galactosaemia Type II Galactose free diet can prevent cataracts yes yes yes yes
MODY Type 2 (Maturity Onset Diabetes in the Young Type 2) Diet, oral hypoglycaemic agents yes yes yes
Permanent Neonatal Diabetes Mellitus Insulin yes yes yes
Glucokinase-Congenital Hyperinsulinism (GCK-CHI) Diet, diazoxide drugs yes yes yes