Test code: 700000

CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel
Test Code: 700000
Turnaround time: 2 to 5 days

What is the CEN4GEN rapid supplemental newborn genetic screen ?
CEN4GEN uses a rapid designed molecular genomics based platform for the full gene sequencing of 99 genes associated with 163 medical conditions, as part of a comprehensive supplemental newborn screen for common genetic disorders in newborns. Many of these disorders are treatable when detected early in newborns, and therefore this test is suitable as a supplemental newborn screen to complement biochemical genetic testing.

What are other CEN4GEN rapid testing options ?

  • CEN4GEN rapid carrier screen of all 170 genetic disorders (Test code: 700001)
  • CEN4GEN rapid diagnostic screen of all 170 genetic disorders (Test code: 700002)
  • CEN4GEN rapid testing for individual genetic disorders (Test codes: 700003 to 700175)

INDICATION
This test is indicated for:

  • Supplemental newborn genetic screen to complement biochemical genetic testing

GENES

ABCD1, ABCD4, ACAD8, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACSF3, ADA, AHCY, ARG1, ASL, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BLM, BTD, CBS, CD320, CFTR, CPT1A, CPT2, CYP21A2, DBT, DLD, DNAJC19, DUOX2, ETFA, ETFB, ETFDH, FAH, G6PC, G6PD, GAA, GALC, GALE, GALK1, GALT, GBA, GCDH, GCH1, GJB2, GJB3, GJB6, GLA, GNMT, HADH, HADHA, HADHB, HBA1, HBA2, HBB, HCFC1, HEXA, HLCS, HMGCL, HPD, HSD17B10, IDUA, IKBKAP, IL2RG, IVD, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, NPC1, NPC2, OPA3, OTC, PAH, PAX8, PCBD1, PCCA, PCCB, PTS, QDPR, SLC22A5, SLC25A13, SLC25A20, SLC26A4, SLC5A5, SMPD1, TAT, TAZ, TCN2

METHODOLOGY

Next Generation Sequencing: In-solution hybridization of the regions encompassing full exonic gene sequences is performed on the patient’s genomic DNA. Direct sequencing of the captured regions is performed using next generation sequencing (NGS). The patient’s gene sequences are then compared to a standard reference sequence. All sequence variants are evaluated using current scientific data to identify pathogenic, likely pathogenic variants, variants of unknown significance (VOUS) and carrier status. Benign and likely benign variants are identified and classified using the latest published, scientific data are not listed in the report. Variants of unknown significance (VOUS) that are either synonymous or outside coding regions are classified as likely benign.

DETECTION

Next Generation Sequencing: Clinical Sensitivity: Pathogenic variants in regions other than the targeted area, including the promoter region, some mutations in the introns and other regulatory element mutations, cannot be detected by this analysis. Large deletions/duplications will not be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient’s clinical/biochemical phenotype.

Analytical Sensitivity: ~99%.

SPECIMEN REQUIREMENTS

Submit only 1 of the following specimen types

Type: Dried Blood spots
Specimen Requirements: 5 saturated dried blood spots on filter paper
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.

Type: Saliva Specimen
Requirements: Oragene™ kit (available from CEN4GEN)
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.

LIST OF GENETIC DISORDERS TESTED

  • 2-methylbutyryl-CoA Dehydrogenase Deficiency
  • 3-hydroxyacyl-CoA dehydrogenase deficiency
  • 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency
  • 3-Methylcrotonyl-CoA carboxylase 1 deficiency (MCC1D)
  • 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MCC2D)
  • 3-methylglutaconic aciduria type I (MCGA1)
  • 3-methylglutaconic aciduria, type III
  • 3-methylglutaconic aciduria, type V
  • 17-beta-hydroxysteroid dehydrogenase X deficiency
  • Adrenoleukodystrophy (X-linked)
  • Alpha-methylacetoacetic aciduria (3-ketothiolase deficiency)
  • Alpha thalassemia
  • Argininemia (Arginase Deficiency)
  • Argininosuccinic aciduria
  • Adult-onset citrullinemia Type II
  • Autosomal dominant deafness Type 3A
  • Autosomal dominant deafness Type 2B
  • Autosomal dominant deafness Type 3B
  • Autosomal dominant persistent hypermethioninemia due to methionine adenosyltransferase I/III deficiency
  • Autosomal recessive deafness
  • Autosomal recessive deafness Type 1A
  • Autosomal recessive deafness Type 1B
  • Autosomal recessive deafness type 4
  • Autosomal recessive Methionine adenosyltransferase deficiency
  • Barth Syndrome
  • Bart-Pumphrey Syndrome
  • Beta thalassemia major
  • BH4-deficient Hyperphenylalaninemia A (6-pyruvoyl tetahydropteril synthase deficiency)
  • BH4-deficient Hyperphenylalaninemia B (GTP cyclohydrolase 1 deficiency)
  • BH4-deficient Hyperphenylalaninemia C
  • BH4-deficient Hyperphenylalaninemia D
  • Biotinidase deficiency
  • Bloom Syndrome
  • Canavan disease
  • Carnitine-acylcarnitine translocase (CACT) deficiency
  • cblE complementation type homocystinuria-megaloblastic anemia
  • cblG complementation type homocystinuria-megaloblastic anemia
  • cblB complement type Vitamin B-12 responsive methylmalonic aciduria (due to defect in synthesis of adenosylcobalamin)
  • cblD complement type homocystinuria (Variant 1)
  • cblD complement type homocystinuria (Variant 2)
  • cblD complement type Methylmalonic aciduria and homocystinuria
  • cblJ Type Methylmalonic aciduria and homocystinuria
  • Citrullinemia type I
  • Clouston type ectodermal dysplasia Type II
  • Congenital bilateral absence of the vas deferens (CVAD)
  • Combined malonic and methylmalonic aciduria
  • Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency
  • Congenital hypothyroidism due to thyroid dysgenesis or hypoplasia
  • Carnitine palmitoyltransferase II deficiency associated myopathy
  • Cystic Fibrosis
  • Digenic GJB2/GJB3 deafness
  • Digenic GJB2/GJB6 deafness
  • Dihydrolipoamide dehydrogenase E3 deficiency
  • DOPA-responsive dystonia (with or without hyperphenylalaninemia)
  • Erythrokeratodermia variabilis et progressiva
  • Fabry disease
  • Familial dilated cardiomyopathy
  • Familial dysautonomia
  • Familial gestational hyperthyroidism
  • Familial hyperinsulinemic hypoglycemia type 4
  • Favism (Glucose-6-phosphate dehydrogenase deficiency)
  • Galactokinase deficiency with cataracts
  • Galactose epimerase deficiency
  • Galactosemia
  • Gaucher disease Type I
  • Gaucher disease Type II
  • Gaucher disease Type III
  • Gaucher disease Type IIIC
  • Glutaric acidemia IIA
  • Glutaric acidemia IIB
  • Glutaric acidemia IIC
  • Glutaric acidemia Type I
  • Glycine N-methyltransferase deficiency
  • Glycogen storage disease Ia
  • Glycogen storage disease II
  • GM2-gangliosidosis
  • Hawkinsinuria
  • Hb Barts
  • Hb C disease (Hb CC)
  • Hb C/ Beta0 thalassemia
  • Hb C/Beta+ thalassemia
  • Hb D disease (Hb DD)
  • Hb D/ Beta0 thalassemia
  • Hb D/Beta+ thalassemia
  • Hb E/ Beta0 thalassemia
  • Hb E/Beta+ thalassemia
  • Hb EE
  • Hb H (3 gene deletion)
  • Hb H/Constant Spring disease
  • Hb S/ Beta0 thalassemia
  • Hb S/Beta+ thalassemia
  • Hb Variant/ Beta0 thalassemia
  • Hb Variant/Beta+ thalassemia
  • Hb variants
  • Hemolytic anemia due to G6PD deficiency
  • Hepatic carnitine palmitoyl transferase deficiency Type I
  • Hepatic carnitine palmitoyl transferase deficiency Type II
  • Hereditary persistence of fetal hemoglobin
  • Hexosaminidase A pseudodeficiency
  • Holocarboxylase synthetase deficiency
  • Homocystinuria due to MTHFR deficiency
  • Homocystinuria, B6-responsive and nonresponsive types
  • Hyperhomocysteinemia thrombosis
  • Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency
  • Hystrix-like ichthyosis with deafness
  • Isobutyryl-CoA dehydrogenase deficiency
  • Isovaleric acidemia
  • Keratitis ichthyosis deafness syndrome
  • Krabbe disease
  • Lethal neonatal carnitine palmitoyl transferase deficiency
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCAD) deficiency)
  • Malonyl-CoA decarboxylase deficiency
  • Maple syrup urine disease type II
  • Maple syrup urine disease, type Ia
  • Maple syrup urine disease, type Ib
  • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
  • Mental retardation X-linked syndromic 10 (MRXS10)
  • Methylmalonic aciduria with homocystinuria, cblC type
  • Methylmalonic aciduria due to Methylmalonyl-CoA Mutase deficiency
  • Methylmalonic aciduria due to transcobalamin receptor defect
  • Methylmalonyl-CoA epimerase deficiency
  • Mucolipidosis IV
  • Mucopolysaccharidosis Ih (Hurler syndrome)
  • Mucopolysaccharidosis Ih/s (Hurler-Scheie syndrome)
  • Mucopolysaccharidosis Is (Scheie syndrome)
  • Neonatal hypertrypsinemia
  • Neonatal onset citrullinemia Type II
  • Niemann-Pick disease, type A
  • Niemann-Pick disease, type B
  • Niemann-Pick disease, type C1
  • Niemann-pick disease, type C2
  • Niemann-Pick disease, type D
  • Nonautoimmune hyperthyroidism
  • Non-classic hyperandrogenism due to 21-hydroxylase deficiency
  • Non-PKU hyperphenylalanemia
  • Optic atrophy 3 with cataract
  • Ornithine transcarbamylase deficiency
  • Palmoplantar keratoderma with deafness
  • Partial adenosine deaminase deficiency
  • Pendred syndrome
  • Perinatal lethal Gaucher disease
  • Phenylketonuria
  • Propionic acidemia
  • Short-chain acyl-CoA dehydrogenase (SCAD) deficiency
  • Severe combined immunodeficiency (SCID) due to adenosine deaminase deficiency (ADAD)
  • Sickle cell anemia (S/S)
  • Sickle cell disease variants
  • Sickle hemoglobin C disease
  • Sickle hemoglobin D disease
  • Sickle hemoglobin E disease
  • Susceptibility to acute-infection induced encephalopathy, type 4
  • Systemic primary carnitine deficiency
  • Tay-Sachs disease
  • Thryoid dyshormonogenesis 6
  • Thyroid dyshormonogenesis 1
  • Transcobalamin II deficiency
  • Trifunctional protein deficiency
  • Tyrosinemia, type I
  • Tyrosinemia, type II
  • Tyrosinemia, type III
  • Vitamin B-12 responsive methylmalonic aciduria
  • Very-long-chain acyl-CoA dehydrogenase deficiency
  • Vohwinkel syndrome
  • X-linked mental retardation with methylmalonic acidemia and homocysteinemia, cblX type
  • X-linked severe combined immunodeficiency (SCID)