Select a pre-curated test, combine multiple tests, or customize your own test for each patient. Invitae's pricing is per "(external) clinical area(clinical area)":/clinical-areas/ for initial order and "(external) re-requisition(Re-requisition)":/re-requisition/. 

The tests and genes on this page are organized into clinical areas. If your order contains tests from multiple clinical areas, you will need to send in two sample tubes and your order will represent two billable events. Your test results will be delivered as two reports. Please contact Client Services with any questions.

Pediatric Genetics

ARSE

Genetic testing for ARSE, which is associated with chondrodysplasia punctata (CDP), a bone-and-cartilage-development disorder.

Invitae ARSE-Related Chondrodysplasia Punctata Test

NSDHL

Add-on NSDHL-Related Disorders Gene

RGS9

CNGA3

PDE6H

ATF6

RGS9BP

PDE6C

CNGB3

GNAT2

The Invitae Achromatopsia Panel analyzes genes that are associated with achromatopsia, which is characterized by low visual acuity, photophobia, nystagmus, and a partial or total absence of color vision. These genes were selected based on the available evidence to date to provide a broad analysis for inherited achromatopsia.

Invitae Achromatopsia Panel

UBR1

DOCK6

NOTCH1

KCTD1

RBPJ

ARHGAP31

EOGT

DLL4

The Invitae Adams-Oliver Syndrome Panel analyzes genes that are associated with Adams-Oliver syndrome, scalp-ear-nipple syndrome, and Johanson-Blizzard syndrome, which are characterized by cutis aplasia of the scalp and various other abnormalities including limb defects and/or congenital heart defects. These genes were selected based on the available evidence to date to provide a broad analysis for Adams-Oliver and related conditions.

Invitae Adams-Oliver Syndrome Panel

JAG1

NOTCH2

Genetic testing for JAG1 and NOTCH2, which are associated with Alagille syndrome, a multisystem disorder characterized by heart defects, liver disease, and other anomalies.


Invitae Alagille Syndrome Panel

ATRX

Genetic testing for the ATRX gene, which is associated with alpha thalassemia X-linked intellectual disability syndrome.

Invitae Alpha Thalassemia X-linked Intellectual Disability Test

CD151

COL4A4

COL4A6

COL4A3

MYH9

COL4A5

Genetic testing for genes associated with Alport syndrome which is generally characterized by renal disease and deafness with possible ocular findings including anterior lenticonus and cataract.

Invitae Alport Syndrome Panel

SRD5A2

Genetic testing for two genes, AR and SRD5A2, that are associated with androgen insensitivity syndrome (AIS).

Invitae Androgen Insensitivity Panel

Genetic testing for the POR gene which is associated with Antley-Bixler syndrome (ABS), a condition that is characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, and joint contractures as well as genitourinary anomalies and impaired steroidogenesis.

Invitae Antley-Bixler Syndrome Test

FGFR2

Add-on Craniosynostosis Gene

ACTG1

ACTB

Genetic testing for two genes known to be associated with Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome, which is characterized by distinctive craniofacial features and intellectual disability.

Invitae Baraitser-Winter Cerebrofrontofacial Syndrome Panel

BBS12

LZTFL1

KIF7

BBS9

BBIP1

BBS4

C8orf37

CEP164

BBS10

FBN3

BBS7

BBS1

SDCCAG8

CEP290

WDPCP

BBS2

ARL6

IFT172

SCLT1

TRIM32

CEP19

IFT27

TRAPPC3

IFT74

MKS1

TTC8

BBS5

MKKS

The Invitae Bardet-Biedl Syndrome  Panel analyzes genes that are associated with Bardet-Biedl Syndrome (BBS), which is characterized by truncal obesity, cognitive impairment rod-cone dystrophy, and renal abnormalities. These genes were selected based on the available evidence to date to provide a broad analysis for BBS.

Invitae Bardet-Biedl Syndrome Panel

NDE1

PTCH1

PANK2

PHGDH

SRD5A3

SMC1A

GRIN2B

TSEN2

POMT1

COL4A2

CDK5

FKTN

EIF2AK2

RAB11B

MFSD2A

ZBTB18

NPRL3

ATP6V0A2

COL3A1

POMK

SMARCA4

POMGNT2

MED12

KRIT1

KIF11

NEDD4L

TBC1D20

PPP1R12A

GMPPB

OCLN

RAD21

KIF2A

UBE3B

STAG2

KATNB1

RERE

C19orf12

AMPD2

VLDLR

CNOT3

RXYLT1

COASY

FKRP

USP9X

GLI2

MRE11

LRP2

RELN

ARID1A

GAS1

TUBB2A

SMARCE1

COL18A1

PLA2G6

ARFGEF2

KMT2E

SMARCB1

ZIC2

YWHAE

L1CAM

PAFAH1B1

RARS2

ARID1B

FLNA

LAMA1

POMT2

CDK13

CUL4B

TUBG1

TOE1

RAB3GAP1

KCNMA1

LAMB1

PIK3R2

TUBA1A

BMP4

DIAPH1

FAT4

DISP1

STIL

SIN3A

SNAP29

HIVEP2

SEPSECS

TSEN34

ZMIZ1

ASNS

SOX2

POMGNT1

WDR45

B3GALNT2

STAMBP

CNOT1

Analyzes genes that are associated with brain malformations including holoprosencephaly, lissencephaly, polymicrogyria, cerebral cavernous malformations, and/or cortical, cerebellar, and corpus callosum malformations.

Invitae Brain Malformations Panel

SOX9

Genetic testing for SOX9, the gene associated with campomelic dysplasia (CD).

Invitae Campomelic Dysplasia Test

SHOC2

SOS1

KRAS

BRAF

MAP2K2

MAP2K1

Genetic testing for 6 genes associated with cardio-facio-cutaneous (CFC) syndrome—characterized by symptoms affecting the heart, facial features, skin, hair, and cognition.

Invitae Cardio-Facio-Cutaneous Syndrome Panel

RAB23

MEGF8

Genetic testing for the MEGF8 and RAB23 genes, which are the only two genes currently known to be associated with Carpenter syndrome.

Invitae Carpenter Syndrome Panel

LEMD2

FYCO1

SIX6

PEX2

CRYBA4

PEX16

PAX6

PEX11B

The Invitae Cataracts Panel analyzes genes that are associated with cataracts, a condition characterized by lens opacity. These genes were selected based on the available evidence to date to provide a broad analysis for inherited cataracts.

Invitae Cataracts Panel

Pediatric genetics