Test by Test Name
-
1
- 15q13.2-q13.3 Deletion/Duplication
- 16p11.2 Deletion/Duplication
- 17q12 Deletion/Duplication
- 17q21 Deletion/Duplication
- 1p36 Deletion/Duplication
- 1q21 Deletion/Duplication
-
a
- Achondroplasia/Hypochondroplasia Mutation Analysis
- ALX3 Sequencing
- Angelman/Prader-Willi Syndrome Methylation and Deletion/Duplication Analysis
- Apert Mutation Analysis
- ARX Sequencing
-
c
- CDKL5 Sequencing
- CHD7 Sequencing
- CHN1 Sequencing
- Claritas Pediatric Neurology Exome
- Nephrotic Syndrome Panel
- ClariView Array
- ClariView Panel: Muscular Dystrophy
- COL1A1 Sequencing
- COL1A2 Sequencing
- Cri du Chat Syndrome Deletion
- Crouzon Syndrome with Acanthosis Nigricans Mutation Analysis
- CYP24A1 Sequencing
-
d
- DCX Deletion/Duplication
- DCX Sequencing
- DHCR7 Sequencing
- DMD Deletion/Duplication
-
e
- ELANE Sequencing
- ERCC6 Deletion/Duplication
- ERCC6 Sequencing
- ERCC8 Deletion/Duplication
- ERCC8 Sequencing
-
f
- F13A1 Sequencing
- F13B Sequencing
- Factor V Leiden Mutation Analysis
- FANCA Sequencing
- FANCC Sequencing
- FANCG Sequencing
- FGFR2 Sequencing
- FLNA Deletion/Duplication
- FLNA Sequencing
- FMR1 CGG Repeat Analysis and Methylation Analysis
- FOXG1 Sequencing
-
g
- GAA Sequencing (Pompe disease)
- GABRG2 Sequencing
- GALT Deletion/Duplication
- GALT Sequencing
- GATA1 Sequencing
- GBA Sequencing (Gaucher disease)
- GJB2 Sequencing
- GJB6 Deletion
- GLA Sequencing (Fabry disease)
- GPR56 Sequencing
-
h
- HAX1 Sequencing
- HOXA1 Sequencing
-
i
- IDUA Sequencing (Hurler disease)
- IRF6 Sequencing
-
j
- JAG1 Deletion/Duplication
- JAG1 Sequencing
-
k
- KIF21A Sequencing
- KRAS Sequencing
-
l
- Langer-Giedion Syndrome Deletion
-
m
- MECP2 Deletion/Duplication
- MECP2 Sequencing
- MELAS Mutation Analysis
- Melnick-Needles Syndrome Select Exon Analysis
- MERRF Mutation Analysis
- Miller-Dieker Syndrome Deletion
- Mitochondrial 12S rRNA Mutations
- Mitochondrial tRNA-Leu Mutations
- Mitochondrial tRNA-Lys Mutations
- Mitochondrial tRNA-Ser Mutations
- MSX1 Sequencing
- MTHFR Thermolabile Variant Analysis
- Muenke Syndrome Mutation Analysis
-
n
- NF1 Deletion/Duplication
- NF2 Deletion/Duplication
- NLGN3 Sequencing
- NLGN4 Sequencing
- NPHP1 Sequencing
- NSD1 Deletion/Duplication
- NSD1 Sequencing
-
o
- OCA2 2.7 kb Deletion
- OCA2 Sequencing
- Otopalatodigital Syndrome Select Exons Sequencing
-
p
- Pfeiffer syndrome FGFR1 Mutation Analysis
- PHOX2A Sequencing
- PMP22 Deletion/Duplication
- Prothrombin Mutation Analysis
- PTEN Deletion/Duplication
- PTEN Sequencing
- PTPN11 Sequencing
-
r
- RAF1 Sequencing
- ROBO3 Sequencing
- RPL11 Sequencing
- RPL5 Sequencing
- RPS19 Sequencing
- RPS24 Sequencing
- Rubinstein-Taybi Syndrome Deletion
-
s
- SALL4 Sequencing
- SBDS Sequencing
- SCN1B Sequencing
- SLC26A3 Sequencing
- SLC26A4 Sequencing
- SLC9A6 Sequencing
- Smith Magenis Syndrome Deletion
- SMN1 Exon 7 Deletion/Duplication
- SMPD1 Sequencing (Niemann-Pick disease)
- SOS1 Sequencing
- Specific Mutation Confirmation/Targeted Mutation Analysis
- SPRED1 Deletion/Duplication
- SPRED1 Sequencing
- SYNGAP1 Sequencing
-
t
- Targeted Mutation Analysis/Specific Mutation Confirmation
- TBX22 Sequencing
- TCF4 Deletion/Duplication
- TCF4 Sequencing
- TMPRSS6 Sequencing
- TPMT Haplotype Analysis
- TUBB3 Sequencing
- TWIST1 Deletion/Duplication
- TWIST1 Sequencing
- TYR Sequencing
-
u
- UBE3A Sequencing
- UGT1A TA Repeat Analysis
-
v
- Velocardiofacial/DiGeorge Syndrome Deletion/Duplication
-
w
- WAGR Syndrome Deletion
- Williams Syndrome Deletion
- Wolf-Hirschhorn Syndrome Deletion
-
x
- XPA Sequencing
- XPC Sequencing
-
y
- Y Chromosome Sequence Detection
