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.

Dermatology

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

SUFU

PTCH1

Analyzes genes associated with basal cell nevus syndrome (BCNS)/Gorlin syndrome.

Invitae Basal Cell Nevus Syndrome Panel

PTCH2

Add-on Preliminary-evidence Gene for Basal Cell Nevus Syndrome

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

MBTPS2

ALDH3A2

AP1S1

PHYH

SNAP29

PNPLA1

ST14

ALOXE3

SERPINB7

ABCA12

KRT9

ELOVL1

GJA1

SULT2B1

SUMF1

CAST

GJB6

CLDN1

KDSR

SDR9C7

GJB3

KRT10

SERPINB8

LIPN

ALOX12B

SPINK5

POMP

PEX7

KRT1

VPS33B

GJB4

ZMPSTE24

GJB2

CYP4F22

AQP5

NIPAL4

ABHD5

KRT2

TGM1

SLC27A4

CDSN

CERS3

ELOVL4

The Invitae Congenital Ichthyosis Panel analyzes genes that are associated with congenital or early onset ichthyosis and related skin diseases, which are characterized by thick, dry, scaly, and/or reddened skin, a collodion membrane, or thickening of the skin on the palms and soles at birth or in early childhood. These genes were selected based on the available evidence to date to provide a broad analysis for inherited congenital ichthyosis.

Invitae Congenital Ichthyosis Panel

MSH6

EPCAM

MLH1

PMS2

MSH2

Analyzes genes that are associated with constitutional mismatch repair deficiency syndrome (CMMR-D).

Invitae Constitutional Mismatch Repair-Deficiency Panel

MPLKIP

KRT16

SNRPE

KRT74

POC1A

BCS1L

BMP4

AXIN2

KRT25

KRT6A

TFAP2B

PTH1R

NFKBIA

KRT14

GTF2H5

ERCC2

TP63

MSX1

TRPV3

KRT6B

EDAR

LPAR6

KRT17

NECTIN1

KANK2

KRT83

WNT10B

ATP7A

GRHL2

KRT71

GTF2E2

EDARADD

KRT85

TRPS1

PORCN

RIN2

LIPH

EGFR

ERCC3

KREMEN1

NECTIN4

PKP1

WNT10A

CDH3

KRT6C

LRP6

TSPEAR

LTBP3

APCDD1

DSG4

IRF6

HOXC13

RPL21

SMOC2

SOX18

ANTXR1

KDF1

RNF113A

CTSC

PAX9

ERCC8

The Invitae Ectodermal Dysplasia and Related Disorders Panel analyzes genes that are associated with disorders affecting ectodermal tissues including skin, hair, teeth, nails, and sweat glands. These genes were selected based on the available evidence to date to provide a broad analysis for inherited ectodermal dysplasia.

Invitae Ectodermal Dysplasia and Related Disorders Panel

ITGB4

CD151

RSPO1

ITGA6

LAMB3

KLHL24

DSG1

LAMC2

ITGA3

SLURP1

LAMA3

AAGAB

KRT5

ENPP1

COL7A1

RHBDF2

FERMT1

PLEC

COL17A1

ATP2C1

EXPH5

The Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel analyzes genes that are associated with epidermolysis bullosa, palmoplantar keratoderma, and related conditions, which are characterized by skin fragility or thickening of the skin on the palms and soles. These genes were selected based on the available evidence to date to provide a broad analysis for inherited epidermolysis bullosa and palmoplantar keratoderma.

Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel

SMARCB1

LZTR1

Analyzes genes associated with hereditary schwannomatosis.

Invitae Hereditary Schwannomatosis Panel

PTEN

CDK4

BRCA2

POT1

MBD4

BAP1

CDKN2A

MITF

TP53

Analyzes genes that are associated with hereditary predisposition to skin cancer (melanoma, basal cell carcinoma).

Invitae Hereditary Skin Cancer Panel

FLCN

BRCA1

MC1R

Add-on Preliminary-evidence Genes for Skin Cancer

CYLD

Add-on CYLD cutaneous syndrome Gene

HPS1

HPS5

CLCN7

NOP10

SLC38A8

EPG5

CTC1

SNAI2

USB1

GNAI3

HPS3

HPS6

C10orf11

WRAP53

SLC45A2

RAB27A

The Invitae Hypopigmentation Panel analyzes genes that are associated with hypopigmentation, which is characterized by decreased skin, hair, and/or eye pigmentation. These genes were selected based on the available evidence to date to provide a broad analysis for inherited hypopigmentation.

Invitae Hypopigmentation Panel