Tests We Offer
The following is an alphabetical list of individual gene tests offered by our lab. Our disease panels and the gene tests they include are listed at the bottom of this page. For your convenience, tests are organized by condition on our requisition form. If you have trouble finding a particular gene test on the requisition form, please use the Adobe Acrobat search feature in the requisition form to locate the gene test you wish to order.
Full sequence analysis of genes listed below includes DNA sequencing in two directions of all coding exons and exon/intron boundaries.
ABCA4 sequencing
ADAM9 sequencing
ADAMTSL4 sequencing
AHI1 sequencing
AIPL1 sequencing
ALMS1 sequencing
AP3B1 (HPS2) sequencing
ASCC3L1 sequencing
BBS1 sequencing
BBS10 sequencing
BLOC1S3 sequencing
c2orf71 sequencing
C8orf37 sequencing
CA4 sequencing
CABP4 sequencing
CACNA1F sequencing
CACNA2D4 common AJ Deletion (del-exon17-exon26, our finding, unpublished)
CACNA2D4 sequencing
CDH23 sequencing
CDHR1 sequencing
CEP290 sequencing
CERKL sequencing
CLRN1 sequencing
CLRN1 common AJ mutation (N48K)
CNGA1 sequencing
CNGA3 sequencing
CNGB1 sequencing
CNGB3 sequencing
CNNM4 sequencing
CRB1 sequencing
CREBB4 sequencing
CRX sequencing
CYP27A1 sequencing
DHDDS sequencing
DHDDS common AJ mutation (K42E)
DTNBP1 sequencing
EDN3 sequencing
EDNRB sequencing
ELOVL4 sequencing
EP300 sequencing
ERCC6 sequencing
ERCC8 sequencing
EYS sequencing
FAM161A sequencing
FRMD7 sequencing
FSCN2 sequencing
GNAT1 sequencing
GNAT2 sequencing
GPR143 (OA1) sequencing
GRK1 sequencing
GRM6 sequencing
GUCA1A sequencing
GUCA1B sequencing
GUCY2D sequencing
HESX1 sequencing
HPS1 common Puerto Rican mutation
HPS1 sequencing
HPS3 common AJ mutation
HPS3 common Puerto Rican mutation
HPS3 sequencing
HPS4 sequencing
HPS5 sequencing
HPS6 sequencing
IDH3B sequencing
IMPDH1 sequencing
IMPG2 sequencing
IQCB1 sequencing
JAG1 sequencing
KCNJ13 sequencing
KCNV2 sequencing
KIT sequencing
KLHL7 sequencing
LCA5 common AJ mutation
LCA5 sequencing
LRAT sequencing
LYST/CHS1 sequencing
MAK sequencing
MAK common AJ mutation
MATP sequencing
MERTK sequencing
MITF sequencing
MYO7A sequencing
NDP sequencing
NOD2 sequencing
NPHP1 sequencing
NPHP4 sequencing
NR2E3 sequencing
NRL sequencing
NYX sequencing
OTX2 sequencing
PAX3 sequencing
PAX6 sequencing
PCDH15 common AJ mutation (R245X)
PDE6A sequencing
PDE6B sequencing
PDE6C sequencing
PDE6G sequencing
P-gene sequencing
PITPNM3 sequencing
PRCD sequencing
PROM1 sequencing
PRPF3 sequencing
PRPF31 sequencing
PRPF6 sequencing
PRPF8 sequencing
PRPH2/RDS sequencing
RAX2 sequencing
RBP3 sequencing
RD3 sequencing
RDH12 sequencing
RDH5 sequencing
RGR sequencing
RHO sequencing
RIMS1 sequencing
RLBP1 sequencing
ROM1 sequencing
RP1 sequencing
RP2 sequencing
RP9 sequencing
RPE65 sequencing
RPGRIP1 sequencing
RS1 sequencing
SAG sequencing
SEMA4A sequencing
SLC24A1 sequencing
SNAI2 sequencing
SOX10 sequencing
SPATA7 sequencing
TGFB1 sequencing
TOPORS sequencing
TRPM1 sequencing
TTC8 sequencing
TULP1 sequencing
TYR sequencing
TYRP1 sequencing
UNC119 sequencing
USH2A sequencing
VMD2/BEST1 sequencing
WFS1 sequencing
ZNF513 sequencing
PANEL: Achromatopsia, 4 genes
(CNGA3, CNGB3, GNAT2, PDE6C)
PANEL: AJ, mutation from 7 genes
(CLRN1 (N48K), DHDDS (K42E), PCDH15 (R245X), LCA5 (Q279X), TRPM1 (exon deletion), CACNA2D4 (exon deletion), MAK (Lys429 Alu insertion)
PANEL: Cone-Rod Dystrophy, Autosomal Dominant, 10 genes
(AILP1, CRX, GUCA1A, GUCY2D, PITPNM3, PROM1, RIMS1, PRPH2/RDS , SEMA4A, UNC119)
PANEL: Cone-Rod Dystrophy, Autosomal Recessive, 11 genes
(ABCA4. ADAM9, CACNA2D4, CERKL CDHR1, CNGB3, KCNV2, PDE6C, RAX2, RDH5, RPGRIP1)
PANEL: Congenital Stationary Night Blindness (X-linked CSNB), 2 genes
(CACNA1F, NYX)
PANEL: Congenital Stationary Night Blindness (CSNB), Autosomal Dominant & Autosomal Recessive, 9 genes
(CABP4, GRK1, GNAT1, GRM6, PDE6B, RHO, SAG, SLC24A1, TRPM1)
PANEL: Hermansky-Pudlak Syndrome (HPS), 8 genes
(HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3)
PANEL: Leber Congenital Amaurosis (LCA), 17 genes
(AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, LCA5, LRAT, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1 (does not include KCNJ13))
PANEL: Oculocutaneous Albinism (OCA/XLOA), 5 genes
(TYR, P-gene, TYRP1, MATP, GPR143 (OA1))
PANEL: Retinitis Pigmentosa (RP), Autosomal Dominant, 21 genes
(ASCC3L1, CA4, CRX, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, PRPF8, PRPF31, PRPH2/RDS, RDH12, RHO, ROM1, RP1, RP9, SEMA4A, TOPORS, VMD2 (BEST1) (does not include PRPF6))
PANEL: Retinitis Pigmentosa (RP), Autosomal Recessive Tier 1, 13 genes
(BEST1, CNGA1, CNGB1, CRB1, EYS, LRAT, NR2E3, NRL, PDE6A, PDE6B, RHO, RPE65, USH2A (does not include MAK))
PANEL: Retinitis Pigmentosa (RP), Autosomal Recessive Tier 2, 20 genes
(CERKL, CLRN1, c2orf71, DHDDS, FAM161A, IDH3B, IMPG2, MERTK, PDE6G, PRCD, PROM1, RBP3, RGR, RLBP1, RP1, SAG, SPATA7, TTC8, TULP1, ZNF513 (does not include MAK))
PANEL: Senior-Loken Syndrome, 4 genes
(CEP290, IQCB1, NPHP1, NPHP4)
PANEL: Waardenburg Syndrome, 6 genes
(EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10)
