newborn screening by ngs next generation sequencing for newborn screening

1. NBS result genes panel availability in ower NGS panel NBS result genes panel availability in ower NGS panel
PAX8 WES, CYP21A2 WES,IEM,
TSHB WES, CYP17A1 WES,IEM,
TSHR WES, CYP11A1 WES,
NKX2-5 WES,CARDIO-VASC, CYP11B1 WES,CARDIO-VASC,
NKX2-1 WES,Neuro, HSD3B2 WES,
DUOX2 WES, STAR WES,
SLC5A5 WES, MC2R WES,
TG WES, biotindase enz. Def. BTD WES,IEM,EPI,Sanger
TPO WES, GALE WES,
low GALT, high total
galactose
GALT WES,OPTH,Sanger GALK1 WES,OPTH,IEM,
NBS result genes panel availability in ower NGS panel NBS result genes panel availability in ower NGS panel
GCH1 WES,IEM, BCKDHA WES,IEM,
PAH WES,IEM, BCKDHB WES,IEM,
PCBD1 WES,IEM, DBT WES,IEM,
PTS WES,IEM, DLD WES,IEM,EPI,
QDPR WES,IEM,EPI, PPM1K WES,IEM,
SPR WES,Neuro,IEM, ASL WES,IEM,
CBS WES,IEM,Hema ASS1 WES,IEM,
GNMT WES, PC WES,Neuro,IEM,EPI,
MAT1A WES,IEM, SLC25A13 WES,IEM,
FAH WES,IEM, DLD WES,IEM,EPI,
SLC25A13 WES,IEM, FAH WES,IEM,
AHCY WES,IEM, HPD WES,IEM,EPI,
MTR WES,IEM,EPI, TAT WES,IEM,
MTRR WES,IEM,EPI, MMAA WES,IEM,
ABCD4 WES,IEM,Hema MMAB WES,IEM,
AMN WES,Hema MMADHC WES,IEM,
CD320 WES,IEM, MCEE WES,IEM,
CUBN WES,Hema MUT WES,IEM,
GIF WES,Hema SUCLA2 WES,IEM,EPI,
HCFC1 WES,Neuro, SUCLG1 WES,Neuro,IEM,
LMBRD1 WES,IEM,Hema ACSF3 WES,IEM,
MMACHC WES,IEM,EPI, ABCD4 WES,IEM,Hema
MMADHC WES,IEM, AMN WES,Hema
TCN1 WES, CD320 WES,IEM,
TCN2 WES,Hema CUBN WES,Hema
AHCY WES,IEM, GIF WES,Hema
MTHFR WES,IEM,EPI,CARDIO-VASC,Hema HCFC1 WES,Neuro,
ACADSB WES,IEM, LMBRD1 WES,IEM,Hema
IVD WES,IEM, MMACHC WES,IEM,EPI,
ACAT1 WES,IEM, TCN1 WES,
AUH WES,IEM,CARDIO-VASC, TCN2 WES,Hema
BTD WES,IEM,EPI, BTD WES,IEM,EPI,
DNAJC19 WES,IEM,CARDIO-VASC, HLCS WES,IEM,
HLCS WES,IEM, MMAA WES,IEM,
HMGCL WES,IEM, PCCA WES,IEM,CARDIO-VASC,
HSD17B10 WES,Neuro,IEM,EPI, PCCB WES,IEM,CARDIO-VASC,
MCCC1 WES,IEM, high C5DC GCDH WES,IEM,EPI,
MCCC2 WES,IEM, high C8 ACADM WES,IEM,
OPA3 WES,OPTH,IEM, high C14:1 ACADVL WES,IEM,CARDIO-VASC,
SERAC1 WES,IEM, HADHA WES,IEM,CARDIO-VASC,
TAZ WES,IEM,CARDIO-VASC,ARRYTHMIA, HADHB WES,IEM,
HMGCS2 WES,IEM,
Link between Newborn screening results and NGS panels
Result from DELFIA Lab
Result from tandem ms/ms Lab
Kuwait National Newborn Screening Program
Homocystinuria
high C3
high Tyrosine
high C5
high C5OH
high C16-OH, C18-OH
Collected by Dr.Amir A.Ahmed
high TSH
high 17OHP
high total galactose/
normal GALT
high PHE
high Leucine
high Citrulline
high Methionine
/Homocystienuria