Test Code: PNL011
Anophthalmia, microphthalmia isolated/syndromic (90 Genes)
Rare Disease
This panel is designed to identify genetic causes of anophthalmia (complete absence of one or both eyes) and microphthalmia (abnormally small eyes), including both isolated ocular forms and syndromic forms associated with extra-ocular abnormalities.
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
2-3 weeks days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
90 genes
ABCB6
ALDH1A3
ALX1
BCOR
BMP4
CAPN15
COX14
COA5
CHD7
COX6B1
CRYAA
CRYBA4
CRYBB2
CRYGD
DPYD
DYRK1A
ERCC6
ESCO2
EYA1
FASTKD2
FOXE3
FOXL2
FRAS1
FREM1
FREM2
GDF3
GDF6
GJA1
GLI3
HCCS
HDAC6
HESX1
HMGB3
HMX1
IKBKG
ISPD
KERA
KIF11
MAB21L2
MAF
MBTPS2
MFRP
MYRF
NAA10
NDP
NHS
OCLN
OTX2
PAX2
PAX6
PHGDH
PITX3
POMT1
PORCN
PQBP1
PRR12
PRSS56
PUF60
RAB18
RAB3GAP1
RAB3GAP2
RARB
RAX
RBP4
RIPK4
SALL2
SALL4
SHH
SIX3
SIX6
SLC36A2
SLC6A19
SLC6A20
SMAD4
SMCHD1
SMOC1
SOX2
STRA6
TBC1D20
TBX1
TENM3
TFAP2A
TGFB2
VAX1
VCAN
VSX1
VSX2
WDR73
ZBTB20
ZIC2
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