-
a
-
ALX3
ARX
-
c
-
CAPN3
CAV3
CDKL5
CHD7
CHN1
COL1A1
COL1A2
CYP24A1
-
d
-
DCX
DDX3Y
DHCR7
DMD
-
e
-
ELANE
ERCC6
ERCC8
-
f
-
F13A1
F13B
F2
F5
FANCA
FANCC
FANCG
FGFR1
FGFR2
FGFR3
- Muenke Syndrome Mutation Analysis
- Crouzon Syndrome with Acanthosis Nigricans Mutation Analysis
- Achondroplasia/Hypochondroplasia Mutation Analysis
FKRP
FLNA
- Otopalatodigital Syndrome Select Exons Sequencing
- Melnick-Needles Syndrome Select Exon Analysis
- FLNA Sequencing
- FLNA Deletion/Duplication
FMR1
FOXG1
-
g
-
GABRG2
GALT
GATA1
GBA
GJB2
GJB6
GLA
GPR56
-
h
-
HAX1
HIC1
HOXA1
-
i
-
IDUA
IRF6
-
j
-
JAG1
-
k
-
KIF21A
KRAS
-
l
-
LIS1
LMNA
-
m
-
MECP2
MELAS
MSX1
MT-TK
MT-TL1
MT-TS1
MTHFR
MTRNR
-
n
-
NF1
NF2
NLGN3
NLGN4
NPHP1
NSD1
-
o
-
OCA2
-
p
-
PHOX2A
PMP22
PTEN
PTPN11
-
r
-
RAF1
ROBO3
RPL11
RPL5
RPS19
RPS24
-
s
-
SALL4
SBDS
SCN1B
SGCA
SGCB
SGCD
SGCG
SLC26A3
SLC26A4
SLC9A6
SMN1 Exon 7
SOS1
SPRED1
SRY
SYNGAP1
-
t
-
TBX22
TCF4
TMPRSS6
TPMT
TRIM32
TRPS1 EXT1
TTTY11
TUBB3
TWIST1
TYR
-
u
-
UBE3A
UGT1A
-
x
-
XPA
XPC
-
y
-
YWHAE
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