ALX3

ARX

CAPN3

CAV3

CDKL5

CHD7

CHN1

COL1A1

COL1A2

CYP24A1

DCX

• DCX Sequencing
• DCX Deletion/Duplication

DDX3Y

DHCR7

DMD

• ClariView Panel: Muscular Dystrophy
• DMD Deletion/Duplication

ELANE

ERCC6

• ERCC6 Deletion/Duplication
• ERCC6 Sequencing

ERCC8

• ERCC8 Deletion/Duplication
• ERCC8 Sequencing

F13A1

F13B

F2

F5

FANCA

FANCC

FANCG

FGFR1

FGFR2

• FGFR2 Sequencing
• Apert Mutation Analysis

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

GABRG2

GALT

• GALT Sequencing
• GALT Deletion/Duplication

GATA1

GBA

GJB2

GJB6

GLA

GPR56

HAX1

HIC1

HOXA1

IDUA

IRF6

JAG1

• JAG1 Sequencing
• JAG1 Deletion/Duplication

KIF21A

KRAS

LIS1

LMNA

MECP2

• MECP2 Sequencing
• MECP2 Deletion/Duplication

MELAS

MSX1

MT-TK

• MERRF Mutation Analysis
• Mitochondrial tRNA-Lys Mutations

MT-TL1

MT-TS1

MTHFR

MTRNR

NF1

NF2

NLGN3

NLGN4

NPHP1

NSD1

• NSD1 Sequencing
• NSD1 Deletion/Duplication

OCA2

• OCA2 Sequencing
• OCA2 2.7 kb Deletion

PHOX2A

PMP22

PTEN

• PTEN Sequencing
• PTEN Deletion/Duplication

PTPN11

RAF1

ROBO3

RPL11

RPL5

RPS19

RPS24

SALL4

SBDS

SCN1B

SGCA

SGCB

SGCD

SGCG

SLC26A3

SLC26A4

SLC9A6

SMN1 Exon 7

SOS1

SPRED1

• SPRED1 Deletion/Duplication
• SPRED1 Sequencing

SRY

SYNGAP1

TBX22

TCF4

• TCF4 Sequencing
• TCF4 Deletion/Duplication

TMPRSS6

TPMT

TRIM32

TRPS1 EXT1

TTTY11

TUBB3

TWIST1

• TWIST1 Sequencing
• TWIST1 Deletion/Duplication

TYR

UBE3A

UGT1A

XPA

XPC

YWHAE