Newborn Screening Gene Panel

Our Gene Panel tests for 92 genes associated with 71 conditions as recommended by ACMG and ACHDNC.

ACAD811q25Isobutyryl-CoA Dehydrogenase (IBD) deficiency Organic Acid DisorderCore
ACADM1p31Medium-chain acyl-CoA dehydrogenase (MCAD) deficiencyFatty Acid DisorderCore
ACADS12q24.31Short-chain acyl- CoA dehydrogenase (SCAD) deficiencyFatty Acid DisorderSecondary
ACADSB10q26.132-methylbutyryl- CoA Dehydrogenase deficiencyOrganic Acid DisorderSecondary
ACADVL17p13.1Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiencyFatty Acid DisorderCore
ACAT111q22.3 Beta-ketothiolase deficiency (?KT)Organic Acid DisorderCore
ADA20q13.12Severe combined Immunodeficiency (SCID)Other DisordersCore
AHCY20q11.22Hypermethioninemia (MET)Amino Acid DisordersSecondary
ARG16q23Arginase deficiency (ARG)Amino Acid DisordersSecondary
ASL7q11.21Argininosuccinic aciduria (ASA)Amino Acid DisordersCore
ASS19q34.1Citrullinemia (CIT) Type I Amino Acid DisordersCore
AUH9q22.31 3-methylglutaconic aciduria (3MGA) Type I Organic Acid DisorderSecondary
BCKDHA19q13.1- q13.2Maple Syrup Urine Disease (MSUD)Amino Acid DisordersCore
BCKDHB6q14.1Maple Syrup Urine Disease (MSUD)Amino Acid DisordersCore
BTD3p25Biotinidase deficiency (BIOT)Other DisordersCore
CBS21q22.3Homocystinuria (HCY) Amino Acid DisordersCore
CFTR7q31.2Cystic fibrosis (CF)Other DisordersCore
CPT1A11q13.2Carnitine Palmitoyltransferase I deficiency (CPT IA)Fatty Acid DisorderSecondary
CPT21p32Carnitine Palmitoyltransferase II deficiency (CPT II)Fatty Acid DisorderSecondary
CYP21A26p21.321-hydroxylase Deficiency (CAHEndocrine DisordersCore
DBT1p31Maple Syrup Urine Disease (MSUD)Amino Acid DisordersCore
DLD7q31-q32Maple Syrup Urine Disease (MSUD)Amino Acid DisordersCore
DNAJC193q26.333-methylglutaconic aciduria (3MGA) Type VOrganic Acid DisorderSecondary
DUOX215q15.3Congenital Hypothyroidism (CH)Endocrine DisordersCore
ETFA15q23-q25Glutaric acidemia type II (GA2)Fatty Acid DisorderSecondary
ETFB19q13.3Glutaric acidemia type II (GA2)Fatty Acid DisorderSecondary
ETFDH4q32-q35Glutaric acidemia type II (GA2)Fatty Acid DisorderSecondary
FAH15q25.1Tyrosinemia (TYR I, II, III)Amino Acid DisordersCore
G6PDXq28Glucose-6- Phosphate dehydrogenase deficiencyHemoglobin DisordersSecondary
GAA17q25.2-25.3Pompe disease (GAA deficiencyNew AdditionsNew Additions
GALC14q31 Krabbe DiseaseNew AdditionsNew Additions
GALE1p36-p35Galactosemia Type IIIOther DisordersSecondary
GALK117q24Galactosemia Type IIOther DisordersSecondary
GALT9p13 Galactosemia Type IOther DisordersCore
GBA1q21Gaucher disease (Types I, II, & III)New AdditionsNew Additions
GCDH19p13.2Glutaric acidemia Type 1 (GA1)Organic Acid DisorderCore
GCH114q22.1- q22.2Disorders of Biopterin regenerationAmino Acid DisordersSecondary
GJB213q11-q12Hearing Loss Nonsyndromic Deafness (2) Palmoplantar Karatoderma (3) Hystrix-like Ichthyosis (4) Bart-Pumphrey Syndrome (5) Vohwinkel syndrome (6) Karatitis-ichthyosis- deafness (KID)Other DisordersCore
GJB31p34Hearing Loss Nonsyndromic Deafness (2) Erythrokeratodermia variabilis et progressive (EKVP)Other DisordersCore
GJB613q12Hearing Loss (1) Nonsyndromic Deafness Clouston syndromeOther DisordersCore
GLAXq22 Fabry diseaseNew AdditionsNew Additions
GNMT6p12Hypermethioninemia (MET)Amino Acid DisordersSecondary
HADH4q22-q263-hydroxyacyl-CoA Dehydrogenase deficiency (M/SCHAD)Fatty Acid DisorderSecondary
HADHA2p23Trifunctional protein deficiency (TFP)Fatty Acid DisorderCore
HADHB2p23Trifunctional protein deficiency (TFP)Fatty Acid DisorderCore
HBA116p13.3Alpha Thalassemia (Hemoglobin Disorder-Var- Hb)Hemoglobin DisordersSecondary
HBA216p13.3Alpha Thalassemia (Hemoglobin Disorder-Var- Hb)Hemoglobin DisordersSecondary
HBB11p15.5(I ) Sickle cell disease (II) Metheglobinemia, beta-globin type (III) Beta thalassemia: thalassemia major and thalassemia intermediaHemoglobin DisordersCore
HLCS21q22.13 Multiple Carboxylase Deficiency (MCD)Organic Acid DisorderCore
HMGCL1p36.1-p35 3-hydroxy-3- methylglutaryl-CoA lyase deficiency (HMG)Organic Acid DisorderCore
HPD12q24.31Tyrosinemia (TYR I, II, III)Amino Acid DisordersSecondary
HSD17B10Xp11.23-hydroxy-2- methylbutyryl- CoA Dehydrogenase deficiency (2M3HBA)Organic Acid DisorderSecondary
IDUA4p16.3Mucopolysaccharidosis Type I (MPS I)New AdditionsNew Additions
IL2RGXq13.1X-linked severe Combined immunodeficiency (SCID)Other DisordersCore
MAT1A10q22Hypermethioninemia (MET)Amino Acid DisordersSecondary
MCCC13q273-methylcrotonyl- CoA carboxylase deficiency (3-MCC)Organic Acid DisorderCore
MCCC25q12-q133-methylcrotonyl- CoA carboxylase deficiency (3-MCC)Organic Acid DisorderCore
MCEE2p13.3Methylmalonic acidemiaOrganic Acid DisorderCore
MLYCD16q24Malonyl-CoA Decarboxylase deficiency (MAL)Organic Acid DisorderSecondary
MMAA4q31.21Methylmalonic acidemia (cblA)Organic Acid DisorderCore
MMAB12q24Methylmalonic acidemia (cblB)Organic Acid DisorderCore
MMACHC1p34.1(I) Methylmalonic acidemia (cblC) (II) Homocystinuria (HCY)Organic Acid DisorderCore
MMADHC2q23.2(I) Methylmalonic acidemia (cblD) (II) Homocystinuria (HCY)Organic Acid DisorderCore
MTHFR1p36.3Homocystinuria (HCY)Amino Acid DisordersCore
MTR1q43Homocystinuria (HCY)Amino Acid DisordersCore
MTRR5p15.31Homocystinuria (HCY)Amino Acid DisordersCore
MUT6p12.3Methylmalonic acidemia (MUT)Organic Acid DisorderCore
NPC118q11.2Niemann-Pick disease (Type C1)New AdditionsNew Additions
NPC214q24.3Niemann-Pick disease (Type C2)New AdditionsNew Additions
OPA319q13.323-methylglutaconic aciduria (3MGA) Type IOrganic Acid DisorderSecondary
OTCXp21.1Ornithine Transcarbamylase Deficiency (OTC)Amino Acid DisordersCore
PAH12q22- q24.2Phenylketonuria (PKU)Amino Acid DisordersCore
PAX82q13Congenital Hypothyroidism (CH)Endocrine DisordersCore
PCBD110q22Disorders of Biopterin regeneratioAmino Acid DisordersSecondary
PCCA13q32Propionic acidemia (PROP)Organic Acid DisorderCore
PCCB3q21-q22Propionic acidemia (PROP)Organic Acid DisorderCore
PTS11q22.3Disorders of Biopterin regenerationAmino Acid DisordersSecondary
QDPR4p15.31Disorders of Biopterin regenerationAmino Acid DisordersSecondary
SLC22A55q23.3Primary carnitine deficiency (CUD)Fatty Acid DisorderCore
SLC25A137q21.3Citrullinemia Type II (CIT II)Amino Acid DisordersSecondary
SLC25A203p21.31Carnitine- Acylcarnitine translocase (CACT)Fatty Acid DisorderSecondary
SLC5A519p13.11Congenital Hypothyroidism (CH)Endocrine DisordersCore
TAT16q22.1Tyrosinemia (TYR I, II, III)Amino Acid DisordersSecondary
TAZXq283-methylglutaconic aciduria (3MGA) Type IOrganic Acid DisorderSecondary
TG8q24Congenital Hypothyroidism (CH)Endocrine DisordersCore
TPO2p25Congenital Hypothyroidism (CH)Endocrine DisordersCore
TSHB1p13Congenital Hypothyroidism (CH)Endocrine DisordersCore
TSHR14q31Congenital Hypothyroidism (CH)Endocrine DisordersCore
ABCD 1Xq28X-linked Adrenoleukodystrophy Adrenomyeloneuropath y Addison disease (X- ALD)New AdditionsNew Additions
DECR 18q21.32,4 Dienoyl-CoA reductase deficiencyNew AdditionsNew Additions
IVD15q14-q15Isovaleric acidemia is a rare disorder in which the body is unable to process certain proteins properlyOrganic Acid DisorderCore
SMPD 111p15.4Niemann-Pick disease (Type A & B)New AdditionsNew Additions


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Bioinformatics Institute of Kenya in The Star newspaper
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