S No Panel Genes Covered Sample type TAT
1 Arthrogryposis TPM2, MYBPC1, MYH3, TNNT3, TNNI2, MYH8,
FBN2, PIEZO2, ECEL1, DOK7, RAPSN
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
2 Klippel-feil syndrome GDF3, GDF6, MEOX1, MYO18B 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
3 Metaphyseal dysplasia (Pyle) ANKH, CDKN1C, FLNA, MMP9, MMP13,
NKX3-2, RMRP, RUNX2
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
4 Multiple epiphyseal dysplasia COL2A1, COL9A1, COL9A2, COL9A3, COMP,
MATN3, SLC26A2
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
5 Osteogenesis imperfecta and low
bone density disorders
ALPL, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP,
FKBP10, IFITM5, LEPRE1, LRP5, PLOD2, PLS3,
PPIB, SERPINF1, SERPINH1, SP7, TMEM38B,
WNT1
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
6 Osteopetrosis and high bone density
disorders
ANKH, CA2, CLCN7, COL1A1, GJA1, HPGD, LRP5,
MTAP, OSTM1, PLEKHM1, PTDSS1, SLCO2A1,
SNX10, SOST, TBXAS1, TCIRG1, TGFB1,
TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
7 Skeletal dysplasia gene panel 2 ug DNA or 2ml EDTA Blood 6 weeks
8 Karyotyping Analysis
(single)
N/A Sodium Heparin (Na
Heparin) Blood (3 ml in
green capped vacutainer)
2 weeks
9 Karyotyping Analysis
(Couple)
N/A Sodium Heparin (Na
Heparin) Blood (3 ml in
green capped vacutainer)
2 weeks
10 Chromosomal CGH microarray
– 750K Array
N/A Minimum 3 ml EDTA
Blood (postnatal sample);
POC/abortus material in
sterile saline solution
4 weeks
11 Whole Exome Sequencing (WES) ~23,000 protein coding genes of
the genome
1 ug DNA or 2 ml
EDTA Blood
7 – 8 weeks
12 Whole Exome Sequencing (WES)
Trio
~23,000 protein coding genes of
the genome
1 ug DNA or 2 ml
EDTA Blood
7 – 8 weeks
13 Whole Genome Sequencing (WGS) All genes in the genome Minimum 4ug DNA
or 4 ml EDTA Blood
(collected in 2
separate tubes)
8 weeks
14 Targeted single exon mutation
analysis
Single exon of the indicated gene EDTA Blood or DNA 3 – 4 weeks