S No Panel Genes Covered Sample type TAT
1 Central hypoventilation syndrome RET, GDNF, EDN3, BDNF, ASCL1, PHOX2A,
PHOX2B, ZEB2, GFRA1, ECE1, MECP2
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
2 Ciliary (primary) dyskinesia panel DNAI1, DNAAF2, DNAAF3, DNAAF5, DNAH5,
HYDIN, NME8, DNAH11, DNAI2, RSPH4A,
RSPH9, DNAAF1, CCDC39, CCDC40, DNAL1,
CCDC103, LRRC6, CCDC114
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
3 Surfactant metabolism dysfunction ABCA3, CSF2RA, CSF2RB, SFTPA1, SFTPB,
SFTPC, SFTPD
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
4 Karyotyping Analysis
(single)
N/A Sodium Heparin (Na
Heparin) Blood (3 ml in
green capped vacutainer)
2 weeks
5 Karyotyping Analysis
(Couple)
N/A Sodium Heparin (Na
Heparin) Blood (3 ml in
green capped vacutainer)
2 weeks
6 Chromosomal CGH microarray
– 750K Baby Array
N/A Minimum 3 ml EDTA
Blood (postnatal sample);
POC/abortus material in
sterile saline solution
4 weeks
7 Whole Exome Sequencing (WES) ~23,000 protein coding genes of
the genome
1 ug DNA or 2 ml
EDTA Blood
7 – 8 weeks
8 Whole Exome Sequencing (WES)
Trio
~23,000 protein coding genes of
the genome
1 ug DNA or 2 ml
EDTA Blood
7 – 8 weeks
9 Whole Genome Sequencing (WGS) All genes in the genome Minimum 4ug DNA
or 4 ml EDTA Blood
(collected in 2
separate tubes)
8 weeks
10 Targeted single exon mutation
analysis
Single exon of the indicated gene EDTA Blood or DNA 3 – 4 weeks