S No Panel Genes Covered Sample type TAT
1 Albinism C10ORF11, GPR143, LYST, MC1R,
MITF, MYO5A, OCA2, RAB27A,
SLC45A2, TYR, TYRP1
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
2 Congenital ichthyosis
(includes harlequin ichthyosis,
ichthyosis erythroderma and
lamellar)
ABCA12, ALOX12B, ALOXE3, CERS3,
CYP4F22, FLG, GJB3, GJB4, KRT1,
KRT10, KRT2, LIPN, LOR, NIPAL4,
PNPLA1, POMP, STS, TGM1
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
3 Cutis laxa ALDH18A1, ATP6V0A2, ATP7A,
EFEMP2, ELN, FBLN5, LTBP4, PYCR1
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
4 Epidermolysis bullosa COL17A1, DSP, DST, EXPH5, FERMT1,
ITGA3, ITGA6, ITGB4, JUP, KRT5,
KRT14, LAMA3, LAMB3, LAMC2,
PKP1, PLEC, TGM5
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
5 Hermansky-Pudlak syndrome HPS1, AP3B1, HPS3, HPS4, HPS5,
HPS6, DTNBP1, BLOC1S3
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
6 Ichthyosis ABCA12, ALOX12B, ALOXE3, AP1S1,
CERS3, CLDN1, CYP4F22, EBP, ERCC2,
ERCC3, FLG, GJB2, GJB3, GJB4,
GTF2H5, KRT1, KRT10, KRT2, LIPN,
LOR, MPLKIP, NIPAL4, PEX7, PHYH,
PNPLA1, POMP, SLC27A4, SNAP29,
SPINK5, ST14, STS, SUMF1, TGM1,
TGM5
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
7 Nonsyndromic hypotrichosis APCDD1, CDSN, DSG4, HR, KRT71,
KRT74, LIPH, LPAR6, RPL21, SNRPE
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
8 Skin cancer CDKN2A, EPCAM, MC1R, MITF,
MLH1, MSH2, MSH6, PMS1, PMS2,
POT1, PTCH1, XRCC3
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
9 Ichthyosis Vulgaris FLG (2 exons) 2ml EDTA Blood/1 ug DNA 2 – 3 weeks
10 Pseudoxanthoma elasticum ABCC6 (31 exons) 2ml EDTA Blood/1
ug purified genomic DNA
7 – 8 weeks
11 Epidermolysis bullosa simplex (EBS)
types:localized, Dowling-Meara type,
other generalized/ Koebner type
KRT5 (9 exons) and KRT14 (8 exons) 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
12 Chanarin-Dorfman syndrome ABHD5 (7 exons) 2ml EDTA Blood/1
ug purified genomic DNA
7 – 8 weeks
13 Darier’s Disease/ Keratosis Follicularis ATP2A2 (20 exons) 2ml EDTA Blood/1
ug purified genomic DNA
7 – 8 weeks
14 Peutz-Jeghers Syndrome STK11 (9 exons) 2ml EDTA Blood/1
ug purified genomic DNA
7 – 8 weeks
15 Ehlers Danlos syndrome panel – all
types
COL1A1, COL1A2, COL3A1,COL5A1,
COL5A2, FKBP14, PLOD1, TNXB
2ml EDTA Blood/1
ug purified genomic DNA
7 – 8 weeks
16 Neurofibromatosis NF1 and NF2 3 ml EDTA Blood/1 ug DNA 4 weeks
17 Tuberous sclerosis TSC1 and TSC2 3 ml EDTA Blood/1 ug DNA 4 weeks
18 Epidermolysis bullosa simplex (EBS)
type: with mottled pigmentation
KRT5 p.Pro25Leu
KRT14 p.Met119Thr
2 ml EDTA Blood/1 ug DNA 2 – 3 weeks
19 Other rarer genodermatoses – Whole
exome Analysis (single)
All coding regions of known
genes
2ml EDTA Blood/1
ug purified genomic DNA
7 – 8 weeks
20 Other rarer genodermatoses – Whole
exome Analysis (trio/ family study)
All coding regions of known genes
(patient + parent samples required)
2ml EDTA Blood/1
ug purified genomic DNA
7 – 8 weeks
21 Karyotyping Analysis(single) N/A Sodium Heparin (Na Heparin) Blood
(3 ml in green capped vacutainer)
2 weeks
22 Karyotyping Analysis (Couple) NA Sodium Heparin (Na Heparin) Blood
(3 ml in green capped vacutainer)
2 weeks
23 Chromosomal CGH microarray
– 750K Baby Array
NA Minimum 3 ml EDTA Blood
(postnatal sample); POC/abortus material
in sterile saline solution
4 weeks
24 Whole Exome Sequencing (WES) ~23,000 protein coding genes of the
genome
1 ug DNA or 2 ml
EDTA Blood
7 – 8 weeks
25 Whole Exome Sequencing (WES) Trio ~23,000 protein coding genes of the
genome
1 ug DNA or 2 ml
EDTA Blood
7 – 8 weeks
26 Whole Genome Sequencing (WGS) All genes in the genome Minimum 4ug DNA or 4 ml EDTA
Blood (collected in 2 separate tubes)
8 weeks
27 Targeted single exon mutation
analysis
Single exon of the indicated gene EDTA Blood or DNA 3 – 4 weeks
28 DNA isolation and storage
(from blood)
N/A 2 EDTA ml Blood 2 days