
Introducing GSeek Newborn
Every baby should be checked for certain medical conditions soon after their birth. This is called newborn screening. Even though the babies appear to be healthy, they may still carry genetic conditions that cannot be detected just by looking at them. Screening for such medical conditions, specially inborn errors of metabolism is essential as early diagnosis of such diseases can prevent some serious problems, such as brain damage, organ damage or even death.
Importance of GSeek Newborn Screening
Importance of newborn screening is that it provides early diagnosis of diseases minimizing the probable damage that can be caused by the disease if left untreated. Early diagnosis means treatment can be started as soon as possible. Early diagnosis and treatment can make a difference with healthy outcomes for babies affected with diseases.
GSeek Newborn Screening Panel
Credence Newborn Screening panel simultaneously screens 328 genes that are responsible for inherited predisposition to Inherited disorders/Diseases. The genes covered in the panel include;
Gene |
Disorder |
Gene |
Disorder |
ABCA4 | Retinitis Pigmentosa | LAMB3 | Epidermolysis Bullosa Simplex |
ABCC9 | Dilated Cardiomyopathy | LAMP2 | Dilated Cardiomyopathy |
ABCD1 | X-Linked Adrenoleukodystrophy | LDB3 | Dilated Cardiomyopathy |
ACADVL | Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency | LMNA | Limb-Girdle Muscular Dystrophy, Type 1B |
ACTA2 | Thoracic Aortic Aneurysms and Aortic Dissections | LRAT | Retinitis Pigmentosa |
ACTC1 | Familial Hypertrophic Cardiomyopathy | LRRK2 | Parkinson Disease |
ACTN2 | Dilated Cardiomyopathy 1AA | MAPRE2 | Retinitis Pigmentosa |
ADA | Severe Combined Immunodeficiency | MAPT | Parkinson-Dementia Syndrome |
AIPL1 | Leber Congenital Amaurosis | MC1R | Oculocutaneous Albinism Type 2 |
AIRE | Autoimmune Polyendocrine Syndrome | MECP2 | MECP2-Rett Syndrome |
AKAP9 | Long QT Syndrome, Autosomal Dominant | MED12 | Fryns Syndrome |
AKR1B1 | Androgen Insensitivity Syndrome | MEN1 | Multiple Endocrine Neoplasia Type 1 |
ALPL | Hypophosphatasia | MERTK | Retinitis Pigmentosa |
AMT | Glycine Encephalopathy | MFN2 | Charcot-Marie-Tooth Neuropathy Type 2A |
ANK2 | Long/Short QT Syndrome, Autosomal Dominant | MLH1 | Turcot Syndrome |
APC | APC-Associated Polyposis Conditions | MMAA | Methylmalonic Acidemia |
APP | Early-Onset Familial Alzheimer Disease | MMAB | Methylmalonic Acidemia |
APTX | Ataxia with Oculomotor Apraxia Type 2 | MMACHC | Methylmalonic Acidemia |
ARL6 | Retinitis Pigmentosa | MPZ | Charcot-Marie-Tooth Neuropathy Type 1B |
ARSA | Arylsulfatase A Deficiency | MSH2 | Turcot Syndrome |
ASL | Argininosuccinate Lyase Deficiency | MTM1 | X-Linked Myotubular Myopathy |
ASPA | Canavan | MUT | Methylmalonic Acidemia |
ATL1 | Spastic Paraplegia-3A | MYBPC3 | Familial Hypertrophic Cardiomyopathy |
ATM | Ataxia-Telangiectasia | MYH11 | Thoracic Aortic Aneurysms and Aortic Dissections |
ATP2A2 | Darier Disease | MYH6 | Familial Hypertrophic Cardiomyopathy |
ATP7A | Menkes/ATP7A-Related Copper Transport Disease | MYH7 | Familial Hypertrophic Cardiomyopathy |
ATP7B | Wilson Disease | MYL2 | Familial Hypertrophic Cardiomyopathy |
ATXN1 | Spinocerebellar Ataxia 1 | MYL3 | Familial Hypertrophic Cardiomyopathy |
ATXN2 | Spinocerebellar Ataxia 2 | MYLK | Familial Hypertrophic Cardiomyopathy |
ATXN7 | Spinocerebellar Ataxia 7 | MYO7A | Usher Syndrome Type 1 |
BAG3 | Dilated Cardiomyopathy 1HH | MYOZ2 | Familial Hypertrophic Cardiomyopathy |
BCKDHA | Maple Syrup Urine Disease | NF1 | Neurofibromatosis Type 1 |
BCKDHB | Maple Syrup Urine Disease | NF2 | Neurofibromatosis Type 2 |
BEST1 | Retinitis Pigmentosa | NIPBL | Cornelia de Lange Syndrome |
BMPR1A | Juvenile Polyposis Syndrome | NKX2-5 | Tetralogy of Fallot |
BTD | Biotinidase Deficiency | NPC1 | Niemann-Pick Disease Type C1 |
BTK | Agammaglobulinemia, X-Linked, Type 1 | NPC2 | Niemann-Pick Disease Type C2 |
CA4 | Retinitis Pigmentosa | NR2E3 | Retinitis Pigmentosa |
CACNA1C | Brugada Syndrome | NRAS | Noonan Syndrome |
CACNB2 | Brugada Syndrome | NSD1 | Sotos Syndrome |
CALR3 | Familial Hypertrophic Cardiomyopathy | NUDT19 | Retinitis Pigmentosa |
CAPN3 | Limb-Girdle Muscular Dystrophy Type 2A – Calpainopathy | OCA2 | Oculocutaneous Albinism Type 2 |
CASQ2 | Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) | OCRL | Lowe Syndrome |
CAV3 | Familial Hypertrophic Cardiomyopathy | OTC | Ornithine Transcarbamylase Deficiency |
CCDC39 | Primary Ciliary Dyskinesia | PABPN1 | Oculopharyngeal Muscular Dystrophy |
CCDC40 | Primary Ciliary Dyskinesia | PAFAH1B1 | Lissencephaly 1 |
CDH23 | Usher Syndrome Type 1 | PAH | Phenylketonuria (PKU) |
CEP290 | Leber Congenital Amaurosis | PAX3 | Waardenburg Syndrome, Type 1 |
CERKL | Retinitis Pigmentosa | PAX6 | Aniridia |
CFTR | Cystic Fibrosis | PCDH15 | Usher Syndrome Type 1 |
CHAT | Congenital Myasthenic Syndromes | PEX1 | Zellweger Syndrome |
CHD7 | Charge Syndrome | PEX3 | Peroxisome Biogenesis, Zellweger |
CHEK2 | Li-Fraumeni Syndrome | PEX5 | Neonatal Adrenoleucodystrophy |
CHM | Choroideremia | PEX10 | Peroxisome Biogenesis, Zellweger |
CHRNA1 | Congenital Myasthenic Syndromes | PEX13 | Peroxisome Biogenesis, Zellweger |
CHRNB1 | Congenital Myasthenic Syndromes | PEX14 | Peroxisome Biogenesis, Zellweger |
CHRND | Congenital Myasthenic Syndromes | PEX19 | Peroxisome Biogenesis, Zellweger |
CHRNE | Congenital Myasthenic Syndromes | PEX26 | Peroxisome Biogenesis, Zellweger |
CLCN1 | Myotonia Congenita | PINK1 | Parkinson Disease |
CNGB1 | Retinitis Pigmentosa | PKD1 | Polycystic Kidney Disease, Autosomal Dominant |
COL11A1 | Stickler Syndrome, AD | PKD2 | Polycystic Kidney Disease, Autosomal Recessive |
COL11A2 | Inherited Deafness | PKHD1 | Polycystic Kidney Disease, Autosomal Recessive |
COL1A1 | Osteogenesis Imperfecta | PKP2 | Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy |
COL1A2 | Osteogenesis Imperfecta | PLEC | Epidermolysis Bullosa Simplex |
COL2A1 | Stickler Syndrome, AD | PLN | Dilated Cardiomyopathy 1P |
COL3A1 | Ehlers-Danlos Syndrome | PLOD1 | Ehlers-Danlos Syndrome, Kyphoscoliotic Form |
COL4A1 | Thoracic Aortic Aneurysms and Aortic Dissections | PMM2 | Congenital Disorder of Glycosylation Type 1a |
COL4A5 | Alport Syndrome | PMP22 | Charcot-Marie-Tooth Neuropathy Type 1A |
COL5A1 | Ehlers-Danlos Syndrome, Classic Type | POLG | Alpers Syndrome |
COL5A2 | Ehlers-Danlos Syndrome, Classic Type | PPT1 | Ceroid Lipofuscinoses (Batten Disease) |
COL7A1 | Epidermolysis Bullosa Simplex | PRCD | Retinitis Pigmentosa |
COL9A1 | Stickler Syndrome | PRKAG2 | Familial Hypertrophic Cardiomyopathy |
CRB1 | Leber Congenital Amaurosis | PROM1 | Retinitis Pigmentosa |
CRX | Retinitis Pigmentosa | PRPF8 | Retinitis Pigmentosa |
CTDP1 | Congenital Cataracts, Facial Dysmorphism, and Neuropathy | PRPF31 | Retinitis Pigmentosa |
CTNS | Cystinosis | PRPH2 | Retinitis Pigmentosa |
CYP27A1 | Cerebrotendinous Xanthomatosis | PSEN1 | Early-Onset Familial Alzheimer Disease |
DBT | Maple Syrup Urine Disease | PSEN2 | Early-Onset Familial Alzheimer Disease |
DCX | Double Cortex Syndrome | PTCH1 | Holoprosencephaly-7 & Basal Cell Nevus Syndrome |
DES | Dilated Cardiomyopathy | PTPN11 | Noonan Syndrome |
DHCR7 | Smith-Lemli-Opitz Syndrome | RAF1 | Noonan Syndrome |
DKC1 | Dyskeratosis Congenita | RAG1 | Severe Combined Immunodeficiency |
DLD | Maple Syrup Urine Disease | RAG2 | Severe Combined Immunodeficiency |
DMD | Duchenne/Becker Muscular Dystrophy | RAI1 | Smith-Magenis Syndrome |
DNAH5 | Primary Ciliary Dyskinesia | RAPSN | Congenital Myasthenic Syndromes |
DNAH9 | Primary Ciliary Dyskinesia | RB1 | Retinoblastoma |
DNAH11 | Primary Ciliary Dyskinesia | RDH12 | Leber Congenital Amaurosis |
DNAI1 | Primary Ciliary Dyskinesia | RET | Multiple Endocrine Neoplasia Type 2 |
DNAI2 | Primary Ciliary Dyskinesia | RHO | Retinitis Pigmentosa |
DNM2 | Charcot-Marie-Tooth Disease Type 2B | ROR2 | Brachydactyly, Type B1 |
DOK7 | Congenital Myasthenic Syndromes | RP9 | Retinitis Pigmentosa |
DSC2 | Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy | RPE65 | Leber Congenital Amaurosis |
DSG2 | Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy | RPGR | Retinitis Pigmentosa |
DSP | Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy | RPGRIP1 | Leber Congenital Amaurosis |
DYSF | Dysferlinopathy | RPL11 | Diamond-Blackfan Anemia |
ELN | Supravalvular Aortic Stenosis | RPL35A | Diamond-Blackfan Anemia |
EMD | Emery-Dreifuss Muscular Dystrophy, X-Linked | RPS6KA3 | Coffin-Lowry Syndrome |
ENG | Hereditary Hemorrhagic Telangiectasia | RPS7 | Familial Hypertrophic Cardiomyopathy |
EXT1 | Exostoses, Multiple, Type 1 | RPS10 | Diamond-Blackfan Anemia |
EYA1 | Branchiootorenal Spectrum Disorders | RPS19 | Diamond-Blackfan Anemia |
EYS | Retinitis Pigmentosa | RPS24 | Diamond-Blackfan Anemia |
F8 | Hemophilia A | RPS26 | Diamond-Blackfan Anemia |
F9 | Hemophilia B | RS1 | X-Linked Juvenile Retinoschisis |
FANCA | Fanconi Anemia | RSPH4A | Primary Ciliary Dyskinesia |
FANCC | Fanconi Anemia | RSPH9 | Primary Ciliary Dyskinesia |
FANCF | Fanconi Anemia | RYR1 | Malignant Hyperthermia Susceptibility |
FANCG | Fanconi Anemia | RYR2 | Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy |
FBN1 | Marfan Syndrome | SALL4 | Duane Syndrome – Autosomal Dominant |
FBXO7 | Parkinson Disease | SCN1B | Brugada Syndrome |
FGFR1 | FGFR-Related Craniosynostosis Syndromes | SCN3B | Brugada Syndrome |
FGFR3 | Hypochondroplasia | SCN4B | Long QT Syndrome, Autosomal Dominant |
FMO3 | Trimethylaminuria | SCN5A | Brugada Syndrome |
FOXL2 | Blepharophimosis-Ptosis-Epicanthus Inversus | SCN9A | SCN9A-Related Inherited Erythromelalgia |
FRG1 | Facioscapulohumeral Muscular Dystrophy | SEMA4A | Retinitis Pigmentosa |
FRMD7 | FRMD7-Related Infantile Nystagmus | SERPINA1 | Alpha-1-Antitrypsin Deficiency |
FSCN2 | Retinitis Pigmentosa | SERPING1 | Angioedema, Hereditary, Types I and II |
FXN | Friedreich Ataxia | SGCD | Dilated Cardiomyopathy |
GAA | Pompe Disease -GSD II | SH3BP2 | Cherubism |
GALT | Galactosemia | SIX1 | Branchiootorenal Spectrum Disorders |
GATA4 | Atrial Septal Defect | SIX5 | Branchiootorenal Spectrum Disorders |
GBA | Gaucher Disease | SLC25A4 | Familial Hypertrophic Cardiomyopathy |
GBE1 | Glycogen Storage Disease Type VI | SLC25A13 | Citrin Deficiency |
GCSH | Glycine Encephalopathy | SLC26A4 | Pendred Syndrome/Syndromic Deafness |
GDF5 | Brachydactyly | SMAD3 | Thoracic Aortic Aneurysms and Aortic Dissections |
GJB2 | Inherited Deafness, Top Genes | SMAD4 | Juvenile Polyposis Syndrome |
GJB3 | Inherited Deafness, Top Genes | SNCA | Parkinson Disease |
GJB6 | Inherited Deafness, Top Genes | SNRNP200 | Retinitis Pigmentosa |
GLA | Fabry Disease | SNTA1 | Long QT Syndrome, Autosomal Dominant |
GLDC | Glycine Encephalopathy | SOD1 | Amyotrophic Lateral Sclerosis (Lou Gehrig’s Disease) |
GNE | Inclusion Body Myopathy 2 | SOS1 | Noonan Syndrome |
GNPTAB | Mucolipidosis II | SOX9 | Campomelic Dysplasia |
GPC3 | Wilms Tumor, Classical | SPATA7 | Retinitis Pigmentosa |
GPD1L | Brugada Syndrome | SPG7 | Spastic Paraplegia 7 |
GPR143 | Ocular Albinism, X-Linked | STARD3 | Cardiomyopathy (Dilated) |
GUCY2D | Leber Congenital Amaurosis | TAF1 | X-Linked Dystonia-Parkinsonism |
HBA2 | Alpha-Thalassemia – Southeast Asia | TAZ | Cardiomyopathy (Dilated) |
HBB | Sickle Cell Disease Beta-Thalassemia | TBX5 | Holt-Oram Syndrome |
HCN4 | Brugada Syndrome | TCOF1 | Treacher Collins Syndrome |
HEXA | Hexosaminidase A Deficiency | TGFBR1 | Thoracic Aortic Aneurysms and Aortic Dissections |
HFE | HFE-Associated Hereditary Hemochromatosis | TGFBR2 | Thoracic Aortic Aneurysms and Aortic Dissections |
HIBCH | Beta-Hydroxyisobutyryl CoA Deacylase Deficiency (HIBCH Deficiency) | TMEM43 | Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy |
HMBS | Hydroxymethylbilane Synthase (HMBS) Deficiency | TNNC1 | Dilated Cardiomyopathy |
HR | Alopecia Universalis Congenita (ALUNC) | TNNI3 | Dilated Cardiomyopathy |
IDS | Hunter Syndrome (MPSII) | TNNT1 | Nemaline Myopathy |
IDUA | Hurler Syndrome (MPSI) | TNNT2 | Familial Hypertrophic Cardiomyopathy |
IKBKAP | Familial Dysautonomia (HSAN III) | TNXB | Ehlers-Danlos Syndrome, Hypermobility Type |
IL2RG | X-Linked SCIDS | TOPORS | Retinitis Pigmentosa |
IMPDH1 | Leber Congenital Amaurosis | TP53 | Li-Fraumeni Syndrome |
ITGB4 | Epidermolysis Bullosa Simplex | TPM1 | Familial Hypertrophic Cardiomyopathy |
JAG1 | Alagille Syndrome | TSC1 | Tuberous Sclerosis Complex |
JUP | Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy | TSC2 | Tuberous Sclerosis Complex |
KCNE1 | Long QT Syndrome, Autosomal Dominant | TTPA | Ataxia with Vitamin E Deficiency |
KCNE2 | Long QT Syndrome, Autosomal Dominant | TTR | Familial Transthyretin Amyloidosis |
KCNE3 | Brugada Syndrome | TULP1 | Retinitis Pigmentosa |
KCNH2 | Long QT Syndrome, Autosomal Dominant | TWIST1 | Saethre-Chotzen Syndrome |
KCNJ2 | Short QT Syndrome | TXNDC3 | Primary Ciliary Dyskinesia |
KCNQ1 | Long QT Syndrome, Autosomal Dominant | TYR | Oculocutaneous Albinism Type 1 |
KCNQ4 | Inherited Deafness | USH1C | Usher Syndrome Type 1 |
KIAA0196 | Spastic Paraplegia 8 | USH2A | Usher Syndrome Type 2 |
KLHL7 | Retinitis Pigmentosa | VCL | Familial Hypertrophic Cardiomyopathy |
KRAS | Noonan Syndrome | VHL | von Hippel-Lindau Syndrome |
KRT5 | Epidermolysis Bullosa Simplex | WAS | Wiskott-Aldrich Syndrome |
KRT14 | Epidermolysis Bullosa Simplex | WRN | Werner Syndrome |
L1CAM | Spastic Paraplegia Type 1 – L1 Syndrome | WT1 | Wilms Tumor, Classical |
Key points
- Get a complete assurance that your baby’s health is safe within hours of birth
- Cost effective testing procedure
- Quick and painless test screening of your baby
- Best possible action plans if any problems are indicated
- Benefit from early diagnosis, reduced medical costs and peace of mind
Did you know?
With Credence New Born Screening parents do not have to wait too long till the symptoms occur to identify the diseases that their baby carries. Just after a few hours of birth, with a couple of spot tests, new born screening reveals the likelihood of the baby developing major genetic conditions at later stages of life.