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.

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).

3 genes

Invitae Schwannomatosis Panel

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Genetic testing for the LZTR1, NF2 and SMARCB1 genes, associated with hereditary predisposition to schwannomatosis.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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
BAP1

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

BRAF

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

BRCA1

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

BRCA2

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
CDK4

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

CDKN2A

The CDKN2A gene is associated with autosomal dominant hereditary melanoma-pancreatic cancer syndrome (MedGen UID: 325450) (OMIM: 600160).

D
E
EDA

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

EDAR

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

EDARADD

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

EPCAM

Deletions including exon 9 of the EPCAM gene are known to cause autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer, or HNPCC) (MedGen UID: 412966). EPCAM is also associated with autosomal recessive congenital tufting enteropathy (CTE) (MedGen UID: 413031).

F
FLCN

The FLCN gene is associated with autosomal dominant Birt-Hogg-Dubé (BHD) syndrome (MedGen UID: 91070).

G
GJB6

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).

GRHL3

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

H
I
IRF6

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
KRAS

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
LTBP3

The LTBP3 gene is associated with autosomal dominant geleophysic dysplasia (MedGen UID: 1339138) and autosomal recessive dental anomalies and short stature (MedGen UID: 318659).

LZTR1

The LZTR1 gene is associated with autosomal dominant schwannomatosis (MedGen UID: 816613). In addition, LZTR1 is associated with autosomal dominant and autosomal recessive Noonan syndrome (MedGen UID: 902892, OMIM: 605275).

M
MAP2K1

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

MAP2K2

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

MC1R

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).

MITF

The c.952G>A, p.Glu318Lys variant in the MITF gene is associated with autosomal dominant susceptibility to cutaneous malignant melanoma (MedGen UID: 463554). Other pathogenic variants in the MITF gene are associated with autosomal dominant Waardenburg syndrome (MedGen UID: 349786) and Tietz albinism-deafness syndrome (MedGen UID: 98213) but are not analyzed by this assay.

MLH1

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).

MSH2

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).

MSH6

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).

MSX1

The MSX1 gene is associated with autosomal dominant 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

The NF1 gene is associated with autosomal dominant neurofibromatosis type 1 (NF1) (MedGen UID: 18013), neurofibromatosis-Noonan syndrome (NFNS) (MedGen UID: 419089), and Watson syndrome (MedGen UID: 107817).

NF2

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

NFKBIA

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

O
P
PAX9

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

PMS2

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).

POT1

The POT1 gene is associated with autosomal dominant cutaneous melanoma (PMID: 24686846, 24686849, 26337759).

PTCH1

The PTCH1 gene is associated with autosomal dominant basal cell nevus syndrome (BCNS), 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).

PTCH2

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

PTEN

The PTEN gene is associated with autosomal dominant PTEN hamartoma tumor syndrome (PHTS) including the clinical subtypes of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and PTEN-related autism spectrum disorder (MedGen UID: 368366). Other PTEN-associated conditions have been described (PMID: 11755638, 17392703, 27890237).

PTPN11

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
RAF1

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

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
SHOC2

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

SMARCB1

The SMARCB1 gene is associated with autosomal dominant rhabdoid tumor predisposition syndrome 1 (RTPS1) (MedGen UID: 322892), schwannomatosis (MedGen UID: 234775), and Coffin-Siris syndrome (MedGen UID: 766162).

SOS1

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

SPRED1

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

SUFU

The SUFU gene is associated with autosomal dominant nevoid basal cell carcinoma syndrome (NBCCS) (MedGen UID: 2554).

T
TERT

The TERT gene is associated with both autosomal dominant and autosomal recessive TERT-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 462793).

TP53

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

TP63

The TP63 gene is associated with autosomal dominant acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome (MedGen UID: 400232), ectrodactyly, ectodermal dysplasia, 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 conditions.

TSC1

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

TSC2

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

U
V
W
WNT10A

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