Test code: 700000

CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel
Test Code: 700000
Turnaround time: 1 to 4 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 100 genes, 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 (Test code: 700001)
  • 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, ASS1, AUH, BCKDHA, BCKDHB, BTD, CBS, CD320, CFTR, CPT1A, CPT2, CYP21A2, DBT, DLD, DNAJC19, DUOX2, ETFA, ETFB, ETFDH, FAH, G6PD, GAA, GALC, GALE, GALK1, GALT, GBA, GCDH, GCH1, GJB2, GJB3, GJB6, GLA, GNMT, HADH, HADHA, HADHB, HBA1, HBA2, HBB, HCFC1, HLCS, HMGCL, HPD, HSD17B10, IDUA, IL2RG, IVD, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, 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, TG, THRA, THRB, TPO, TSHB, TSHR

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. 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: Whole Blood
Specimen Requirements:
In EDTA (purple top) or ACD (yellow top) tube: 5 ml
Specimen Collection and Shipping: Ship sample 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.

Type: DNA
Requirements: 1 to 4 ug of DNA in TE buffer
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-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (Mental retardation X-linked syndromic 10 (MRXS10))
  • 2-methylbutyryl-CoA dehydrogenase deficiency (short/branched-chain acyl-CoA dehydrogenase deficiency)
  • 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG-CoA lyase deficiency)
  • 3-hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD) (Familial hyperinsulinemic hypoglycemia type 4)
  • 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC)
  • 3-methylglutaconic aciduria (3MGA) type I (Barth Syndrome)
  • 3-methylglutaconic aciduria (3MGA) type V
  • Alpha thalassemia (Hemoglobin Disorder-Var-Hb)
  • Arginase deficiency (ARG)
  • Argininosuccinic aciduria (ASA)
  • Beta-ketothiolase (BKT) deficiency
  • Biotinidase deficiency (BIOT)
  • Carnitine palmitoyltransferase I deficiency (CPT IA)
  • Carnitine palmitoyltransferase II deficiency (CPT II)
  • Carnitine-acylcarnitine translocase (CACT) deficiency
  • Citrullinemia type I
  • Citrullinemia type II
  • Classic galactosemia type I
  • Combined malonic and methylmalonic aciduria (CMAMMA)
  • Congenital adrenal hyperplasia (CAH) (Non-classic hyperandrogenism due to 21-hydroxylase deficiency)
  • Congenital hypothyroidism (CH)
  • Cystathionine beta-synthase deficiency (homocystinuria) Hyperhomocysteinemic thrombosis
  • Cystic fibrosis (CF)
  • Fabry disease
  • Galactokinase deficiency (galactosemia type II)
  • Galactose epimerase deficiency (galactosemia type III)
  • Gaucher disease (Types I, II, & III)
  • Glucose-6-phosphate dehydrogenase deficiency
  • Glutaric acidemia type I (GA1)
  • Glutaric acidemia type II (GA2)
  • Glycogen storage disease type II (Pompe disease)
  • Holocarboxylase synthetase deficiency (MCD)
  • Homocystinuria (HCY)
  • Hypermethioninemia (MET)
  • Isobutyryl-CoA dehydrogenase (IBD) deficiency
  • Isovaleric acidemia (IVA)
  • Krabbe Disease
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency (Trifunctional protein deficiency (TFP))
  • Malonyl-CoA decarboxylase deficiency (Malonic acidemia)
  • Maple syrup urine disease (MSUD)
  • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
  • Methylmalonic acidemia (MUT)
  • Methylmalonic acidemia and homocystinuria, cblC type
  • Methylmalonic acidemia and homocystinuria, cblD type
  • Methylmalonic acidemia due to cobalamin disorder (cblA)
  • Methylmalonic acidemia due to cobalamin disorder (cblB)
  • Methylmalonic acidemia due to transcobalamin receptor defect
  • Methylmalonic acidemia with homocystinuria
  • Methylmalonic acidemia with homocystinuria, cblF type,
  • Methylmalonyl-CoA epimerase deficiency
  • Mucopolysaccharidosis type I (MPS I)
  • Niemann-Pick disease (Type C1)
  • Niemann-Pick disease (Type C2)
  • Niemann-Pick disease (Types A & B)
  • Non-syndromic hearing loss
  • Ornithine transcarbamylase (OTC) deficiency
  • Pendred syndrome (Congenital Hearing Loss)
  • Phenylketonuria (PKU) (Non-PKU hyperphenylalanemia (HPA))
  • Primary carnitine deficiency (CUD)
  • Propionic acidemia (PROP)
  • Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency
  • Short-chain acyl-CoA dehydrogenase (SCAD) deficiency
  • Sickle cell disease (Beta thalassemia)
  • Tetrahydrobiopterin deficiency
  • Tetrahydrobiopterin deficiency DOPA-responsive dystonia
  • Transcobalamin deficiency
  • Trifunctional protein deficiency (TFP)
  • Tyrosinemia type I
  • Tyrosinemia type II
  • Tyrosinemia type III (Hawkinsinuria)
  • Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
  • X-linked severe combined immunodeficiency (SCID)
  • X-linked Adrenoleukodystrophy (Adrenomyeloneuropathy Addison disease (X-ALD))