| Disorder/Phenotype | Gene | MIM Gene | Type of Analysis |
|---|---|---|---|
| Pseudoxanthoma Elasticum | ABCC6 | 603234 | Sequence analysis of the entire coding region and detection of deletions in exons 23-29 |
| Fibrodysplasia Ossificans Progressiva | ACVR1 | 102576 | Sequence analysis of the entire coding region |
| Hypophosphatasia | ALPL | 171760 | Sequence analysis of the entire coding region |
| Craniometaphyseal Dysplasia | ANKH | 605145 | Sequence analysis of the exons 9 and 10 of the ANKH gene |
| Microcephaly 5, Primary Autosomal Recessive | ASPM | 605481 | Sequence analysis of the entire coding region |
| Escobar Syndrome | CHRNG | 100730 | Sequence analysis of the entire coding region |
| Osteopetrosis Autosomal Dominant 2 | CLCN7 | 602727 | Sequence analysis of the entire coding region |
| Osteopetrosis, Autosomal Recessive 4 | CLCN7 | 602727 | Sequence analysis of the entire coding region |
| Metaphyseal Chondrodysplasia, Schmid Type | COL10A1 | 120110 | Sequence analysis of the entire coding region |
| Stickler Syndrome Type 2 | COL11A1 | 120280 | Please contact us for more details |
| Stickler Syndrome Type 3 | COL11A2 | 120290 | Please contact us for more details |
| Ehlers-Danlos Syndrome Type 7 A/B | COL1A1 | 120150 | Sequence analysis of the entire coding region |
| Osteogenesis Imperfecta, Collagen Type 1 Alpha 2 | COL1A2 | 120160 | Sequence analysis of the entire coding region |
| Achondrogenesis, Type II; ACG2 (Langer-Saldino) | COL2A1 | 120140 | Sequence analysis of the entire coding region |
| Ehlers-Danlos Syndrome Type 7 A/B | COL2A1 | 120140 | Sequence analysis of the entire coding region |
| Hypochondrogenesis | COL2A1 | 120140 | Sequence analysis of the entire coding region |
| Stickler Type I Syndrome | COL2A1 | 120140 | Sequence analysis of the entire coding region |
| Ehlers-Danlos Syndrome Type 4 | COL3A1 | 120180 | Please contact us for more details |
| Ehlers Danlos Type 4, Vascular Type | COL3A1 | 120180 | Sequence analysis of the entire coding region & Deletion/duplication analysis |
| Ehlers-Danlos Syndrome Type 1 | COL5A1 | 120215 | Sequence analysis of the entire coding region & Deletion/duplication analysis |
| Ehlers-Danlos Syndrome Type 2 | COL5A2 | 120190 | Sequence analysis of the entire coding region & Deletion/duplication analysis |
| Dystrophic Epidermolysis Bullosa | COL7A1 | 120120 | Sequencing of exons 73, 74 and 75 |
| 3MC Syndrome 2 | COLEC11 | 612502 | Sequence analysis of the entire coding region |
| Hypohidrotic Ectodermal Dysplasia | EDA | 300451 | Sequence analysis of the entire coding region |
| Hypohidrotic Ectodermal Dysplasia | EDAR | 604095 | Sequence analysis of the entire coding region |
| Hypohidrotic Ectodermal Dysplasia | EDARADD | 606603 | Sequence analysis of the entire coding region |
| Waardenburg Syndrome, Type 4B | EDN3 | 131242 | Sequence analysis of the entire coding region |
| Waardenburg Syndrome, Type 4A | EDNRB | 131244 | Sequence analysis of the entire coding region |
| Contractural Arachnodactyly, Congenital | FBN2 | 612570 | Mutation screening exons 15, 22-33 and 35-36 of FB N2 gene |
| Hypophosphatemic Rickets, Autosomal Dominant; Adhr | FGF23 | 605380 | Sequence analysis of the entire coding region |
| Craniosynostosis | FGFR1 | 136350 | Sequence analysis of the exon 7 in FGFR1 gene |
| Pfeiffer Syndrome | FGFR2 | 176943 | Sequence analysis of the entire coding region |
| Hypochondroplasia | FGFR3 | 134934 | Sequence analysis of the entire coding region |
| Thanatophoric Dysplasia | FGFR3 | 134934 | Sequence analysis of the entire coding region |
| Otopalatodigital Syndrome | FLNA | 300017 | Screening of the exons 3, 4 and 5 of the FLNA gene |
| Hidrotic Ectodermal Dysplasia | GJB6 | 604418 | Sequence analysis of the entire coding region |
| Simpson-Golabi-Behmel Syndrome | GPC3 | 300037 | Sequence analysis of the entire coding region & Deletion/duplication analysis |
| Incontinentia Pigmenti | IKBKG | 300248 | Deletion exons 4 – 10 |
| Epidermolysis Bullosa Simplex | KRT14 | 148066 | Sequence analysis of the entire coding region |
| Epidermolysis Bullosa Simplex | KRT14 | 148066 | Sequencing of 1, 4 and 6 exons of the KRT14 gene |
| Epidermolysis Bullosa Simplex | KRT5 | 148040 | Sequence analysis of the entire coding region |
| Epidermolysis Bullosa Simplex | KRT5 | 148040 | Sequencing of 1, 5 and 7 exons of the KRT5 gene |
| 3MC Syndrome 1 | MASP1 | 600521 | Sequence analysis of the entire coding region |
| Microcephaly 1, Primary Autosomal Recessive | MCPH1 | 607117 | Detection of the S25X mutation in the MCPH1 gene |
| Microcephaly 1, Primary Autosomal Recessive | MCPH1 | 607117 | Sequence analysis of the entire coding region |
| Arthrogryposis Multiplex Congenita, Distal Type 2A | MYH3 | 160720 | Sequence analysis of the entire coding region |
| Hypophosphatemic Rickets, X-Linked Dominant (PHEX) | PHEX | 300550 | Sequence analysis of the entire coding region & Deletion/duplication analysis |
| Dystrophic Epidermolysis Bullosa | PLEC1 | 601282 | Sequence analysis of the entire coding region & Deletion/duplication analysis |
| Dystrophic Epidermolysis Bullosa | PLEC1 | 601282 | Sequencing of exon 32 |
| Ehlers-Danlos Syndrome Type 6 | PLOD1 | 153454 | Please contact us for more details |
| Porphyria Variegata | PPOX | 600923 | Sequence analysis of the entire coding region |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome | PRG4 | 604283 | Sequence analysis of the entire coding region |
| Tylosis With Esophageal Cancer | RHBDF2 | 614404 | Sequence analysis of the entire coding region |
| Brachydactyly, Type B | ROR2 | 602337 | Sequence analysis of the entire coding region |
| Cleidocranial Dysplasia | RUNX2 | 600211 | Sequence analysis of the entire coding region |
| Alpha1-Antitrypsin Deficiency | SERPINA1 | 107400 | Genotyping of the PI*Z and PI*S alleles of the SERPINA1 gene |
| Cherubism | SH3BP2 | 602104 | Sequence analysis of the entire coding region |
| Leri-Weill Syndrome (SHOX) | SHOX | 312865 | Please contact us for more details |
| Epiphyseal Dysplasia, Recessive Multiple 4 | SLC26A2 | 606718 | Mutations screening of 9R279W, IVS1+2T>C and C6535 in the SLC26A2 gene |
| Acrodermatitis Enteropathica | SLC39A4 | 607059 | Please contact us for more details |
| Waardenburg Syndrome, Type 2E, With Or Without Neurologic Involvement | SOX10 | 602229 | Sequence analysis of the entire coding region |
| Waardenburg Syndrome, Type 4C | SOX10 | 602229 | Sequence analysis of the entire coding region |
| Ichthyosis X Linked | STS | 300747 | Please contact us for more details |
| Holt Oram Syndrome | TBX5 | 601620 | Detection of mutations in exons 6,7,8 of TBX5 by sequencing |
| Holt Oram Syndrome | TBX5 | 601620 | Sequence analysis of the entire coding region |
| Ehlers-Danlos Syndrome Type 3 | TNXB | 600985 | Please contact us for more details |
| Arthrogryposis Multiplex Congenita, Distal Type | TPM2 | 190990 | Sequence analysis of the entire coding region |
| Saethre-Chotzen Syndrome | TWIST | 601622 | Sequence analysis of the entire coding region |
| Arthropathy, Progressive Pseudorheumatoid, Of Childhood | WISP3 | 603400 | Sequence analysis of the entire coding region |
| Xeroderma Pigmentosum, Group A | XPA | 611153 | Sequence analysis of the entire coding region |
| Darier-White Disease | ATP2A2 | 108740 | Sequence analysis of the entire coding region |
| Knobloch Syndrome Type I | COL18A1 | 120328 | Sequence analysis of the entire coding region |
| Multiple Epiphyseal Dysplasia | COL9A1 | 120210 | Sequence analysis of the entire coding region |
| Stickler Syndrome | COL9A1 | 120210 | Sequence analysis of the entire coding region |
| Multiple Epiphyseal Dysplasia | COL9A2 | 120260 | Sequence analysis of the entire coding region |
| Multiple Epiphyseal Dysplasia | COL9A3 | 120270 | Sequence analysis of the entire coding region |
| Multiple Epiphyseal Dysplasia, Type 1 | COMP | 600310 | Sequence analysis of the entire coding region |
| Pseudoachondroplasia | COMP | 600310 | Sequence analysis of the entire coding region |
| Atopic Dermatitis | CSTA | 184600 | Sequence analysis of the entire coding region |
| Psoriasis Susceptibility 5 | CSTA | 184600 | Sequence analysis of the entire coding region |
| Xeroderma Pigmentosum | ERCC1 | 126380 | Sequence analysis of the entire coding region |
| Xeroderma Pigmentosum | ERCC2 | 126340 | Sequence analysis of the entire coding region |
| Xeroderma Pigmentosum | ERCC4 | 133520 | Sequence analysis of the entire coding region |
| Xeroderma Pigmentosum | ERCC5 | 133530 | Sequence analysis of the entire coding region |
| Waardenburg Syndrome Type 1 & 3 | PAX3 | 606597 | Please contact us for more details |
| Inherited Erythromelalgia | SCN9A | 603415 | Sequence analysis of the entire coding region |
| Epiphyseal Dysplasia, Recessive Multiple 4 | SLC26A2 | 606718 | Sequence analysis of the entire coding region |
| Treacher Collins Syndrome | TCOF1 | 606847 | Sequence analysis of the entire coding region |
| Spondyloepiphyseal Dysplasia | TRAPPC2 | 300202 | Sequence analysis of the entire coding region |
| Langer-Giedion Syndrome | TRPS1 | 604386 | Sequence analysis of the entire coding region |
| Trichorhinophalangeal Syndrome Type I | TRPS1 | 604386 | Sequence analysis of the entire coding region |
| Trichorhinophalangeal Syndrome Type III | TRPS1 | 604386 | Sequence analysis of the entire coding region |
| Wagner Syndrome | VCAN | 118661 | Sequence analysis of the entire coding region |