Dermatology

Select a pre-curated test, combine multiple tests, or customize your own test for each patient. Invitae’s pricing is per clinical area for initial order and 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.

Clinical Area: Hereditary Cancer

up to 12 genes

Invitae Melanoma Panel

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Genetic testing for up to 12 genes associated with an increased lifetime risk of developing melanoma as well as other cancer types.

GENES TESTED:

Primary Panel:
BAP1 BRCA2 CDK4 CDKN2A MITF POT1 PTEN RB1 TP53

Add-on Preliminary-evidence Genes for Melanoma:
BRCA1 MC1R TERT

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

2 genes

Invitae Melanoma-Pancreatic Cancer Syndrome Panel

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Genetic testing for CDKN2A and CDK4 which cause melanoma-pancreatic cancer syndrome (M-PCS) and familial atypical mole-malignant melanoma syndrome (FAMMM).

GENES TESTED:

CDK4 CDKN2A

up to 3 genes

Invitae Basal Cell Nevus Syndrome Panel

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Genetic testing for PTCH1 which is associated with basal cell nevus syndrome (BCNS), also known as Gorlin syndrome.

GENES TESTED:

Primary Panel:
PTCH1 SUFU

Add-on Preliminary-evidence Gene for Basal Cell Nevus Syndrome:
PTCH2

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. This gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

1 gene

Invitae Birt-Hogg-Dubé Syndrome Test

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Genetic testing for FLCN which is associated with Birt-Hogg-Dubé syndrome, affecting the skin, lungs, and kidneys with predisposition to pneumothorax and renal cancer.

GENES TESTED:

FLCN

5 genes

Invitae Lynch Syndrome Panel

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Genetic testing for 5 genes associated with Lynch syndrome. This condition increases the risk for colorectal, ovarian, and uterine cancer.

GENES TESTED:

EPCAM MLH1 MSH2 MSH6 PMS2

up to 2 genes

Invitae Neurofibromatosis Type 2 Test

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This test analyzes NF2, which is associated with neurofibromatosis type 2, a condition predisposing those who have it to the development of benign central nervous system tumors.

GENES TESTED:

Primary Panel:
NF2

Add-on Schwannomatosis Gene:
SMARCB1

Prior to the development of vestibular schwannomas, NF2 can be difficult to distinguish from schwannomatosis. The development of vestibular schwannomas, usually by age 30, is a hallmark of NF2, whereas in schwannomatosis, vestibular schwannomas are absent. This gene can be added for no additional charge.

up to 2 genes

Invitae Schwannomatosis Test

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Genetic testing for schwannomatosis, a condition characterized by multiple non-vestibular schwannomas, primarily along peripheral nerves, and generally presents in adulthood with chronic pain.

GENES TESTED:

Primary Panel:
SMARCB1

Add-on Neurofibromatosis Type 2 Gene:
NF2

Individuals with multiple schwannomas may eventually fulfill NF2 diagnostic criteria and some simplex cases of schwannomatosis are mosaic for a pathogenic NF2 variant. This gene can be added to this test for no additional charge.

2 genes

Invitae Tuberous Sclerosis Complex Panel

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Genetic testing for TSC1 and TSC2 which are associated with tuberous sclerosis complex (TSC) featuring kidney, brain, skin, lung, and heart tumors.

GENES TESTED:

TSC1 TSC2

Clinical Area: Pediatric and Rare Disease

6 genes

Invitae Cardio-Facio-Cutaneous Syndrome Panel

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

GENES TESTED:

BRAF KRAS MAP2K1 MAP2K2 SHOC2 SOS1

up to 10 genes

Invitae Ectodermal Dysplasia with or without Tooth Agenesis Panel

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Genetic testing for up to 10 genes that are associated ectodermal dysplasia (ED), a group of conditions characterized by abnormal development of skin, hair, teeth, nails, and sweat glands.

GENES TESTED:

Primary Panel:
EDA EDAR EDARADD LTBP3 MSX1 NFKBIA PAX9 WNT10A

Add-on Clouston Syndrome and TP63-related Disorder Genes:
GJB6 TP63

Ectodermal dysplasia is a shared feature observed in Clouston syndrome (GJB62) and TP63-related disorders. In addition to ectodermal dysplasia, Clouston syndrome is also characterized by palmoplantar hyperkeratosis. TP63-related disorders represent a class of overlapping phenotypes that share a common spectrum of features including variable forms of ectodermal dysplasia, cleft lip/palate, hypopigmented skin, split-hand/foot malformation and/or syndactyly, and hypoplasia of the breasts and/or nipples. Depending on the clinical presentation of the patient, clinicians may wish to broaden analysis by including these genes at no additional charge.

up to 2 genes

Invitae Legius Syndrome Test

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Genetic testing for Legius syndrome, a condition with clinical overlap with neurofibromatosis type 1 and characterized by café-au-lait spots, axillary and inguinal freckling, macrocephaly and lipomas.

GENES TESTED:

Primary Panel:
SPRED1

Add-on Neurofibromatosis Type 1 Gene:
NF1

The RASopathies exhibit numerous overlapping phenotypic features due to their common underlying Ras/MAPK pathway dysregulation. Legius syndrome overlaps clinically with neurofibromatosis type 1 (NF1): Both are characterized by the presence of multiple café-au-lait spots and axillary and inguinal freckling, but Legius syndrome lacks NF1-specific features like neurofibromas, Lisch nodules, and optic gliomas. For this reason (and depending on the clinical presentation of the patient), clinicians may wish to include NF1 in this test for a broader analysis.

3 genes

Invitae Noonan Syndrome with Multiple Lentigines Panel

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Genetic testing for 3 genes associated with Noonan syndrome with multiple lentigines (NSML)—characterized by multiple lentigines, cardiac abnormalities, dysmorphic features, pulmonary stenosis, abnormal genitalia, short stature, and deafness.

GENES TESTED:

BRAF PTPN11 RAF1

1 gene

Invitae PTEN-Related Disorders Test

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Genetic testing for PTEN pathogenic variants that are associated with PTEN hamartoma tumor syndrome and PTEN-related autism spectrum disorder.

GENES TESTED:

PTEN

1 gene

Invitae TP63-Related Disorders Test

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Genetic testing for the TP63 gene which is associated with autosomal dominant acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome, ectrodactyly, ectodermal dysplasia, and and cleft lip/palate syndrome 3 (EEC3), Hay-Wells syndrome (HWS), limb-mammary syndrome, Rapp-Hodgkin syndrome, and split-hand/foot malformation, collectively known as TP63-related disorders.

GENES TESTED:

TP63

2 genes

Invitae van der Woude Syndrome Panel

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Genetic testing for two genes that are associated with van der Woude syndrome (VDWS), which is characterized by cleft lip or cleft palate and by bilateral paramedian lower lip pits.

GENES TESTED:

GRHL3 IRF6

To add genes to your cart, first select a clinical area to see available combinations

  • Clinical Area: Hereditary Cancer
  • Clinical Area: Pediatric and Rare Disease

Gene
A
B
Synonym(s): HUCEP-13; hucep-6; UCHL2

The BAP1 gene is associated with autosomal dominant BAP1 tumor predisposition syndrome (MedGen UID: 482122).

Synonym(s): B-raf; B-RAF1; BRAF1; NS7; RAFB1

The BRAF gene is associated with the autosomal dominant Noonan syndrome (MedGen UID: 462320) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 266149).

The BRCA1 gene is associated with autosomal dominant hereditary breast and ovarian cancer (HBOC) syndrome (MedGen UID: 151793).

Synonym(s): FACD; FANCD; FANCD1

The BRCA2 gene is associated with autosomal dominant hereditary breast and ovarian cancer (HBOC) syndrome (MedGen UID: 151793) and autosomal recessive Fanconi anemia, type D1 (FA-D1) (MedGen UID: 325420).

C

The CDK4 gene is associated with autosomal dominant hereditary cutaneous melanoma (MedGen UID: 268851).

Synonym(s): CDKN2; MLM

The CDKN2A gene is associated with autosomal dominant hereditary melanoma-pancreatic cancer syndrome (MedGen UID: 325450).

D
E
EDA
Synonym(s): ECTD1; ED1; ED1-A1; ED1-A2; EDA-A1; EDA-A2; EDA1; EDA2; HED; HED1; ODT1; STHAGX1; TNLG7C; XHED; XLHED

The EDA gene is associated with X-linked hypohidrotic ectodermal dysplasia (MedGen UID: 57890).

Synonym(s): DL; ECTD10A; ECTD10B; ED1R; ED3; ED5; EDA-A1R; EDA1R; EDA3; HRM1

The EDAR gene is associated with autosomal recessive hypohidrotic ectodermal dysplasia (HED) (MedGen UID: 96067). Additionally, the EDAR gene has preliminary evidence supporting a correlation with autosomal dominant hypohidrotic ectodermal dysplasia (MedGen UID: 314095; PMID: 10431241, 20979233).

Synonym(s): ECTD11A; ECTD11B; ED3; EDA3

The EDARADD gene is associated with autosomal dominant and autosomal recessive hypohidrotic ectodermal dysplasia (MedGen UID: 314095, 96067).

Synonym(s): DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8; KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1

Inactivation of MSH2 through deletions at the 3’ end of the EPCAM gene are known to cause autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer, or HNPCC) (MedGen UID: 40399; PMID: 23938213, 23264089, 19455606). EPCAM is also associated with autosomal recessive congenital tufting enteropathy (CTE) (MedGen UID: 413031; PMID: 18572020, 21315192).

F

The FLCN gene is associated with autosomal dominant Birt-Hogg-Dube (BHD) syndrome (MedGen UID: 91070). Additionally, the FLCN gene has preliminary evidence supporting a correlation with colon cancer.

G
Synonym(s): CX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2; EDH; HED; HED2

The GJB6 gene is associated with autosomal dominant non-syndromic deafness (DFNA3B) (MedGen UID: 436382), Clouston type ectodermal dysplasia 2 (ECTD2) (MedGen UID: 56416) and autosomal recessive non-syndromic deafness (DFNB1B) (MedGen UID: 436381). Additionally, the GJB6 gene has preliminary evidence supporting an association with digenic inheritance of deafness with the GJB2 gene (MedGen UID: 388720).

Synonym(s): SOM; TFCP2L4; VWS2

The GRHL3 gene is associated with autosomal dominant van der Woude syndrome (MedGen UID: 338272).

H
I
Synonym(s): LPS; OFC6; PIT; PPS; PPS1; VWS; VWS1

The IRF6 gene is associated with autosomal dominant popliteal pterygium syndrome (MedGen UID: 78543) and autosomal dominant van der Woude syndrome (MedGen UID:61233). Additionally, the IRF6 gene has limited evidence supporting a correlation with non-syndromic orofacial cleft (MedGen UID: 332391).

J
K
Synonym(s): C-K-RAS; c-Ki-ras2; CFC2; K-RAS2A; K-RAS2B; K-RAS4A; K-RAS4B; KI-RAS; KRAS1; KRAS2; NS; NS3; RALD; RASK2

The KRAS gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 349931) and cardiofaciocutaneous (CFC) syndrome (MedGen UID: 501102). Other KRAS-related conditions have been reported (OMIM).

L
Synonym(s): DASS; LTBP-3; LTBP2; pp6425; STHAG6

The LTBP3 gene is associated with autosomal recessive dental anomalies and short stature (MedGen UID: 318659).

M
Synonym(s): CFC3; MAPKK1; MEK1; MKK1; PRKMK1

The MAP2K1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 22527) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 501103).

Synonym(s): CFC4; MAPKK2; MEK2; MKK2; PRKMK2

The MAP2K2 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 22527) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 501103).

The MC1R gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant cutaneous malignant melanoma (MedGen UID: 416516).

Synonym(s): WS2; WS2A

The MITF gene is associated with an increased risk for autosomal dominant cutaneous malignant melanoma (MedGen UID: 463554).

Synonym(s): COCA2; FCC2; hMLH1; HNPCC; HNPCC2

The MLH1 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 232603) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

Synonym(s): COCA1; FCC1; HNPCC; HNPCC1; LCFS2

The MSH2 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 423615) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

Synonym(s): GTBP; GTMBP; HNPCC5; HSAP; p160

The MSH6 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 318886) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

Synonym(s): ECTD3; HOX7; HYD1; STHAG1

The MSX1 gene is associated with tooth agenesis (MedGen UID: 43794) and orofacial clefting (MedGen UID: 373280). Additionally, the MSX1 gene has preliminary evidence supporting a correlation with autosomal dominant ectodermal dysplasia affecting the teeth and nails, also known as Witkop syndrome (PMID: 11369996).

N
NF1
Synonym(s): NFNS; VRNF; WSS

The NF1 gene is associated with autosomal dominant neurofibromatosis type 1 (NF1) (MedGen UID: 18013). Additionally, evidence of varying degrees suggests a possible association between the NF1 gene and several cancer types (PMID: 23257896, 23165953, 25130111, 20833335).

NF2
Synonym(s): ACN; BANF; merlin; SCH

The NF2 gene is associated with autosomal dominant neurofibromatosis type 2 (NF2) (MedGen UID: 18014).

Synonym(s): IKBA; MAD-3; NFKBI

The NFKBIA gene is associated with autosomal dominant anhidrotic ectodermal dysplasia with T-cell immunodeficiency (EDA-ID) (MedGen UID: 394295).

O
P
Synonym(s): STHAG3

The PAX9 gene is associated with autosomal dominant tooth agenesis (MedGen UID: 43794).

Synonym(s): HNPCC4; MLH4; PMS2CL; PMSL2

The PMS2 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 325005) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

The POT1 gene is associated with autosomal dominant cutaneous melanoma (PMID: 24686846, 24686849, 26337759). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant glioma (PMID: 25482530, 25524796, 26634384) and cardiac angiosarcoma (PMID: 26403419).

Synonym(s): BCNS; HPE7; NBCCS; PTC; PTC1; PTCH; PTCH11

The PTCH1 gene is associated with autosomal dominant nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome (MedGen UID: 2554). Additionally, the PTCH1 gene has preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (HPE) (MedGen: 372134).

The PTCH2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant nevoid basal cell carcinoma syndrome (NBCCS) (MedGen UID: 2554).

Synonym(s): 10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1; PTEN1; TEP1

The PTEN gene is associated with autosomal dominant PTEN hamartoma tumor syndrome (PHTS) including the clinical subtypes of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome (MedGen UID: 368366).

Synonym(s): BPTP3; CFC; JMML; METCDS; NS1; PTP-1D; PTP2C; SH-PTP2; SH-PTP3; SHP2

The PTPN11 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 22527), Noonan syndrome with multiple lentigines (NSML)(MedGen UID: 442308), and metachondromatosis (MedGen UID: 98377).

Q
R
Synonym(s): c-Raf; CMD1NN; CRAF; NS5; Raf-1

The RAF1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 370589), Noonan syndrome with multiple lentigines (NSML) (MedGen UID: 370588), and dilated cardiomyopathy (MedGen UID: 807537).

RB1
Synonym(s): OSRC; p105-Rb; pp110; PPP1R130; pRb; RB

The RB1 gene is associated with autosomal dominant retinoblastoma (MedGen UID: 20552). Additionally, evidence of varying degrees suggests a possible association between the RB1 gene and several cancer types in retinoblastoma survivors (PMID: 14996857, 22355046).

S
Synonym(s): SIAA0862; SOC2; SUR8

The SHOC2 gene is associated with autosomal dominant Noonan-like syndrome with loose anagen hair (MedGen UID: 334697).

Synonym(s): BAF47; CSS3; hSNFS; INI1; MRD15; PPP1R144; RDT; RTPS1; Sfh1p; SNF5; SNF5L1; Snr1; SWNTS1

The SMARCB1 gene is associated with autosomal dominant rhabdoid tumor predisposition syndrome 1 (RTPS1) (MedGen UID: 322892) and schwannomatosis (MedGen UID: 234775).

Synonym(s): GF1; GGF1; GINGF; HGF; NS4

The SOS1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 339908).

Synonym(s): hSpred1; NFLS; PPP1R147; spred-1

The SPRED1 gene is associated with autosomal dominant Legius syndrome (MedGen UID: 370709).

Synonym(s): PRO1280; SUFUH; SUFUXL

The SUFU gene is associated with autosomal dominant nevoid basal cell carcinoma syndrome (NBCCS) (MedGen UID: 2554), and medulloblastoma (MedGen UID: 7517). Additionally, there is preliminary evidence supporting a correlation with susceptibility to meningioma (MedGen UID: 232281).

T
Synonym(s): CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT; PFBMFT1; TCS1; TP2; TRT

The TERT gene is associated with both autosomal recessive and autosomal dominant dyskeratosis congenita (MedGen UID: 462793), and autosomal dominant idiopathic pulmonary fibrosis (IPF) (MedGen UID: 321462).

Synonym(s): BCC7; LFS1; p53; TRP53; tumor protein p53

The TP53 gene is associated with autosomal dominant Li-Fraumeni syndrome (LFS) (MedGen UID: 322656).

Synonym(s): AIS; B(p51A); B(p51B); EEC3; KET; LMS; NBP; OFC8; p40; p51; p53CP; p63; p73H; p73L; RHS; SHFM4; TP53CP; TP53L; TP73L

The TP63 gene is associated with autosomal dominant acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome (MedGen UID: 400232), ectrodactyly, ectodermal dysplasia, and and cleft lip/palate syndrome 3 (EEC3) (MedGen UID: 347666), Hay-Wells syndrome (MedGen UID: 98032), limb-mammary syndrome (MedGen UID: 355051), Rapp-Hodgkin syndrome (MedGen UID: 315656), and split-hand/foot malformation (MedGen UID: 343120), collectively known as TP63-related disorders.

Synonym(s): LAM; TSC

The TSC1 gene is associated with autosomal dominant tuberous sclerosis complex (TSC) (MedGen UID: 344288).

Synonym(s): LAM; PPP1R160; TSC4

The TSC2 gene is associated with autosomal dominant tuberous sclerosis complex (TSC) (MedGen UID: 348170).

U
V
W
Synonym(s): OODD; SSPS; STHAG4

The WNT10A gene is associated with autosomal recessive types of ectodermal dysplasia (MedGen UID: 208666, 347366) and autosomal dominant tooth agenesis (MedGen UID: 372057).

X
Y
Z