BG Newborn Screening Panel

Description

Newborn Screening Panel Using next-generation sequencing, the BG Newborn Panel includes full exon sequencing of the associated genes +/- approximately 25bp into the flanking intronic regions to identify potential variations. This is a clinical genetic test, and results are analyzed and interpreted by the Baby Genes laboratory and medical staff. The clinical report delivers information on any pathogenic or likely pathogenic variants and their clinical significance. In addition, the report will identify any non-synonymous variants of unknown significance.

Sample Requirements

Baby Genes will provide Dried Blood Spot (DBS) collection kits with each order. Each test requires five blood spots, information card (included with the kit) and signed informed consent which is accomplished on checkout.

Each kit comes with return packaging and a pre-paid shipping label.

Newborn Screening Panel Methodology

Genomic DNA is extracted following standard protocols. DNA is amplified to obtain coding exons and their flanking regions (approximately 25 bp on either side). Sequencing is done via next generation sequencing method, and all fragments are sequenced by forward and reverse internal primers when possible to determine the noted regions. Mutations are scored relative to the reference sequences deposited in the publicly available database NCBI and following the recommendations of the human genetic variation nomenclature scheme. Accordingly, exon 1 of the tested gene is defined as the exon in which the first ATG appears. Chromosomal positions are indicated according to the hg19 reference assembly. Clinical reports are reviewed and approved by the Clinical Laboratory Director and the Baby Genes Physician of Record (if necessary).


ABCD1

ACAD8

ACADM

ACADS

ACADSB

ACADVL

ACAT1


ADA


AHCY

ARG1


ASL

ASS1

AUH

BCKDHA

BCKDHB


BTD


CBS

CFTR

CPT1A

CPT2

CYP21A2

DBT

DECR1

DLD

DNAJC19


DUOX2

ETFA

ETFB


ETFDH

FAH

GAA

GALC

GALE

GALK1

GALT

GBA

GCDH

GCH1

GJB2


GJB3

GJB6

GLA

GNMT

HADH

HADHA

HADHB

HBA1

HBA2


HBB

HLCS

HMGCL

HPD

HSD17B10

IDUA

IL2RG

IVD

MAT1A

MCCC1

MCCC2

MCEE

MLYCD

MMAA

MMAB

MMACHC

MMADHC

MTHFR

MTR

MTRR

MUT

NPC1

NPC2

OPA3

PAH

PAX8

PCBD1

PCCA

PCCB

PTS

QDPR

SLC22A5

SLC25A13

SLC25A20

SLC5A5

SMPD1

TAT

TAZ

TG

TPO

TSHB

TSHR