Introducing Newborn Screening

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 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.

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Credence 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.