qSeq easy neonatal. Metabolism and neonatal screening

Molecular analysis of mutations by NGS  in genes that cause congenital metabolic disorders.

The neonatal screening programs implemented in Spain cover the screening of a variable number of genetic diseases, ranging from 3 to more than 20 depending on the autonomic community where the test is performed. On July 23, 2013, the Interterritorial Council of the National Health System approved the creation of a common portfolio of neonatal screening that includes seven tests for early detection of the following diseases in newborns in Spain: congenital hypothyroidism, phenylketonuria, cystic fibrosis, medium chain acyl  dehydrogenated coenzyme A deficiency (MCADD), long chain 3-hydroxyl acyl-CoA dehydrogenase deficiency (LCHADD), glutaric acidemia type 1 and sickle-cell anemia.

These programs are intended to identify congenital metabolic disorders before they manifest with clinical symptoms, thus avoiding or minimizing their possible consequences (mental retardation, developmental delay or even premature death of the neonate). In case of a positive results the first biochemical heel test, the neonate will be referred to the specialist for additional tests and, if necessary, a genetic study is requested for definite confirmation of the diagnosis.

One single comprehensive genetic test

The qSeq Easy® Neonatal service is based on Next Generation Sequencing (NGS) and developed by qGenomics in collaboration with researchers from different reference centers in genomics and the specific diseases. In a single experiment, the totality of coding regions (exons), intron / exon boundaries, and deep intron regions of more than 70 genes that are known to associated with this type of diseases are analyzed. This approach allows to have one sole procedure for the analysis of mutations in all these genes, reducing the cost per analysis and response time.

This assay allows the identification of any type of mutation present at any location of the gene with high reliability.

Turn-around time: 30 working days from sample reception.

GeneAssociated phenotypeOMIM dissease ID
ACADMAcyl-CoA dehydrogenase, medium chain deficiency of201450
ACADSShort-chain acyl-CoA dehydrogenase deficiency201470
ACADVLVLCAD deficiency201475
ACAT1Alpha-methylacetoacetic aciduria203750
ARG1Arginase deficiency207800
ASLArgininosuccinate Lyase Deficiency207900
BCKDHAMaple syrup urine disease type Ia248600
BCKDHBMaple syrup urine disease type Ib248600
BTDBiotinidase deficiency253260
CBSHomocystinuria B6-responsive and nonresponsive types236200
CFTRCystic Fibrosis219700
CPT1ACPT I deficiency, hepatic255120
CPT2CPT II deficiency, lethal neonatal608836
CYP21A2Adrenal hyperplasia due to 21-hydroxylase deficiency201910
DBTMaple syrup urine disease type II248600
DLDMaple syrup urine disease type III248600
DUOX2Thryoid dyshormonogenesis 6607200
DUOXA2Thyroid dyshormonogenesis 5274900
ETFAGlutaric acidemia IIA231680
ETFBGlutaric acidemia IIB231680
ETFDHGlutaric acidemia IIC231680
FAHTyrosinemia type I276700
G6PDGlucose-6-phosphate dehydrogenase deficiency305900
GALEGalactose epimerase deficiency230350
GALK1Galactokinase deficiency with cataracts230200
GCDHGlutaric aciduria, type I231670
GJB2Deafness Autosomal Dominant 3A601544
GLIS3Diabetes mellitus, neonatal, with congenital hypothyroidism610199
HADHALCHAD deficiency609016
HBA1,HBA2Alpha Thalassemias604131
HBBBeta Thalassemias613985
HMGCLHMG-CoA lyase deficiency246450
IVDIsovaleric acidemia243500
IYDThyroid dyshormonogenesis 4274800
MCCC13-methylcrotonyl-CoA carboxylase deficiency210200
MCCC23-methylcrotonyl-CoA carboxylase deficiency210210
MCEEVitamin B12-unresponsive methylmalonic acidemia251120
MMAAMethylmalonic aciduria, vitamin B12-responsive251100
MMABMethylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type251110
MMACHCMethylmalonic aciduria and homocystinuria, cblC type277400
MMADHCMethylmalonic aciduria and homocystinuria, cblC type277410
MUTMethylmalonic aciduria, mut(0) type251000
MVKMevalonate kinase deficiency260920
NKX2-1Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978
NKX2-5Hypothyroidism, congenital nongoitrous 5225250
PAX8Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia218700
PCCAPropionic acidemia606054
PCCBPropionic acidemia606054
SLC5A5Thyroid dyshormonogenesis 1274400
SLC22A5Carnitine deficiency, systemic primary212140
SLC26A4Pendred syndrome274600
TGThyroid dyshormonogenesis 3274700
TPOThyroid dyshormonogenesis 2A274500
TSHBHypothyroidism, congenital, nongoitrous 4275100
TSHRHypothyroidism, congenital, nongoitrous 1275200
TTF2Bamforth-Lazarus syndrome241850

Download the informed consent document HERE

Access the order platform Print application form
How to order a test
  1. Identify the adequate test from our service catalogue.
  2. Prepare the test application form and fill in all the information available both for the sample and the clinical record to guarantee highest quality of test results and shortest response time.
  3. It is crucial to correctly identify the sample with patient name or identifier and date of birth.
  4. Print the completed application form and sign it.
  5. Collect the required sample quantity.
  6. Properly prepare the sample shipment along with the application form.
  7. Alternatively, the order can be processed conveniently via our online order platform.
Required specifications for biologic samples
  • Blood – 1 EDTA tube with 3-5 ml (children 1ml minimum)
  • Purified DNA – usually >5 ug, at >50 ng/ul
  • Saliva or buccal swab – Request collection kit
  • Blood on filter paper – A minimum of 10 spots on Guthrie card or filter paper
  • Amniotic fluid – Minimum of 10 ml
  • CVS – Minimum of 2-3 villi
  • Cord blood – Minimum 1 ml
  • Cultured cells – 1 vial of 25 ml, minimum 80% confluence
  • Biopsy or fresh tissue – More than 10 mg of tissue
  • Paraffin-embedded tissue – At least 10 cuts of 20 um
  • cfDNA – 1 tube DNA BCT Streck with 10 ml of blood
How to prepare your sample for shipping

Call us at +34 932.301.270 and we will take care of a smooth sample pick-up and shipping.

How to prepare your sample for shipping?

  • Blood-EDTA, purified DNA, saliva, blood on paper, cord blood, biopsy, … are stable at room temperature for 3 or 4 days. Samples can be sent, adequately protected, by ordinary mail or courier.
  • Amniotic fluid (a minimum of 10 ml collected in a sterile falcon test tube). Can be sent at room temperature and low temperatures should be avoided. Samples should reach our laboratory in no more than 24 hours.
  • Chorionic villi samples must travel in the same way, in a tube with conical bottom FILLED TO CAPACITY with PBS or culture medium.
  • Cultured cells should be shipped at room temperature, in a culture flask filled to capacity with culture medium.
  • Blood for cfDNA analysis: must be shipped at room temperature.