New York Clients
The following list of tests do not require a New York State exemption. If your test is not on this list please fill out the exemption form below. Test codes marked with an asterisk(*) include an exon-level deletion/duplication test for which a NY exemption is required.
NYS Dept. of Health Instructions New York Exemption Form
Tests that do not require a New York exemption:
| Disorder | Test Code | Test Name | Genes |
| Whole Exome Sequencing | 561 | Whole Exome Sequencing Test (XomeDx) | Whole Exome |
| Alagille Syndrome | 1001* | JAG1 Tier 1 Sequencing & Del/Dup | JAG1 |
| Alagille Syndrome | 1002 | JAG1 Tier 2 Sequencing | JAG1 |
| Alagille Syndrome | 1004* | JAG1 Gene Sequencing & Del/Dup | JAG1 |
| Androgen Insensitivity Syndrome (AIS) | 220 | AR Gene Sequencing | AR |
| Androgen Insensitivity Syndrome (AIS) | 2201 | Prenatal AR Gene Sequencing | AR |
| Brugada Syndrome | 384 | BrS Sequencing Panel |
CACNA1C, CACNB2, GPD1L, KCNE3, SCN1B, SCN3B, SCN5A |
| Carney Complex | 198 | PRKAR1A Gene Sequencing | PRKAR1A |
| CHARGE Syndrome | 2261 | CHD7 Gene Sequencing | CHD7 |
| CHARGE Syndrome | 2262 | Prenatal CHD7 Gene Sequencing | CHD7 |
| Chronic Granulomatous Disease (CGD) | 1435 | NCF1 (Exon 2) Gene Sequencing | NCF1 |
| Chronic Granulomatous Disease (CGD) | 1434 | CYBB Gene Sequencing | CYBB |
| Chronic Infantile Neurologic Cutaneous and Articular Syndrome; Familial Cold Autoinflammatory Syndrome; Familial Cold Urticaria syndrome; Muckle-Wells Syndrome; Neonatal Onset Multisystem Inflammatory Disease | 217 | NLRP3 Exon 3 Sequencing | NLRP3 (CIAS1) |
| Clouston Syndrome | 157 | GJB6 Gene Sequencing | GJB6 |
| Cyclic Neutropenia, Severe Congenital Neutropenia | 105 | ELANE Gene Sequencing | ELANE |
| Dent Disease | 229 | CLCN5 Gene Sequencing | CLCN5 |
| Developmental Disorders, Autism Spectrum Disorders | 910 | Whole Genome Array (GenomeDx) | n/a |
| Diamond Blackfan Anemia | 1061 | RPS19 Gene Sequencing | RPS19 |
| Dilated Cardiomyopathy/Left Ventricular Non-compaction | 635 | DCM/LVNC Sequencing Panel (38 genes) | ACTC1, ACTN2, ANKRD1, CSRP3, DES, EMD, LAMP2, LMNA, MTND1, MTND5, MTND6, MTTD, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MYBPC3, MYH7, NEXN, PLN, RBM20, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, ZASP |
| Dopa-Responsive Dystonia; GTP Cyclohydrase I Deficiency | 230 | GCH1 Gene Sequencing | GCH1 |
| Dyskeratosis Congenita | 107 | TERC Gene Sequencing | TERC |
| Dyskeratosis Congenita | 108 | DKC1 Gene Sequencing | DKC1 |
| Ectodermal Dysplasia | 156 | EDAR Gene Sequencing | EDAR |
| Ectodermal Dysplasia | 1601E* | EDA1 Gene Sequencing & Del/Dup (Females) | EDA1 |
| Ectodermal Dysplasia | 1601 | EDA1 Gene Sequencing (Males) | EDA1 |
| Ectodermal Dysplasia, EEC, Rapp-Hodgkin, other | 158 | TP63 Gene Sequencing | TP63 |
| Epidermolysis Bullosa Simplex | 168 | KRT5/KRT14 Hot Spots Sequencing | KRT5, KRT14 |
| Epidermolysis Bullosa Simplex | 1681 | KRT5 Gene Sequencing | KRT5 |
| Epidermolysis Bullosa Simplex | 1682 | KRT14 Gene Sequencing | KRT14 |
| Epidermolytic Hyperkeratosis | 1181 | KRT1, KRT10 Hot Spots Sequencing | KRT1, KRT10 |
| Epidermolytic Hyperkeratosis | 1182 | KRT1 Gene Sequencing (EI) | KRT1 |
| Epidermolytic Hyperkeratosis | 1183 | KRT10 Gene Sequencing | KRT10 |
| Epidermolytic Palmoplantar Keratoderma | 2081 | KRT9 Hot Spots Sequencing | KRT9 |
| Erythrokeratodermia Variabilis | 119 | Connexin Gene Sequencing | GJB3, GJB4 |
| Fabry Disease | 2321 | GLA Gene Sequencing | GLA |
| Familial Cutaneous Malignant Melanoma | 2021 | CDKN2A (p16) & CDK4 (Exon2) Sequencing | CDKN2A, CDK4 |
| Familial Cutaneous Malignant Melanoma | 2022 | CDKN2A (p16)Gene Sequencing | CDKN2A |
| Familial Mediterranean Fever | 214 | MEFV Select Exons Sequencing | MEFV |
| Gorlin Syndrome | 205* | PTCH Gene Sequencing & Del/Dup | PTCH |
| Hereditary Angioedema | 2341* | C1INH Gene Sequencing & Del/Dup | C1INH (SERPING1) |
| Hereditary Multiple Exostoses | 1813* | EXT1 & EXT2 Sequencing & Del/Dup | EXT1, EXT2 |
| Hereditary Multiple Exostoses | 1811* | HME Tier 1 Sequencing & Del/Dup | EXT1, EXT2 |
| Hereditary Multiple Exostoses | 1812 | HME Tier 2 Sequencing | EXT2 |
| Hermansky-Pudlak Syndrome | 189 | HPS3 Mutation Analysis (Ashkenazi Jewish) | HPS3 |
| Hermansky-Pudlak Syndrome | 188 | HPS1 & HPS3 Mutation Analysis (Puerto Rican) | HPS1, HPS3 |
| Hirschsprung Disease | 2351 | RET Select Exons Sequencing (HSCR) | RET |
| Hirschsprung Disease | 2352 | RET Remaining Exons Sequencing (HSCR) | RET |
| Holoprosencephaly | 2371* | Holoprosencephaly Sequencing & Del/Dup Panel | SHH, SIX3, TGIF, ZIC2 |
| Holoprosencephaly | 2373* | Prenatal Holoprosencephaly Sequencing & Del/Dup Panel | SHH, SIX3, TGIF, ZIC2 |
| Hydrocephalus, XL | 2551E* | L1CAM Gene Sequencing & Del/Dup (Females) | L1CAM |
| Hydrocephalus, XL | 2553E* | Prenatal L1CAM Gene Sequencing & Del/Dup (Females) | L1CAM |
| Hydrocephalus, XL | 2551 | L1CAM Gene Sequencing (Males) | L1CAM |
| Hydrocephalus, XL | 2553 | Prenatal L1CAM Gene Sequencing (Males) | L1CAM |
| Hyper IgD Syndrome | 216 | MVK Select Exons Sequencing | MVK |
| Hyper IgD Syndrome | 2161 | MVK Remaining Exons Sequencing | MVK |
| Hypertrophic Cardiomyopathy | 333 | HCM Sequencing Panel | ACTC, CAV3, GLA, LAMP2, MTTG, MTTI, MTTK, MTTQ, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1, TTR |
| Hypophosphatemic Rickets, AD | 184 | FGF23 Gene Sequencing | FGF23 |
| Hypophosphatemic Rickets, XL | 1861E* | PHEX Gene Sequencing & Del/Dup (Females) | PHEX |
| Hypophosphatemic Rickets, XL | 1861 | PHEX Gene Sequencing (Males) | PHEX |
| Loeys Dietz Syndrome & Related Disorders | 597 | Marfan Syndrome/TAAD Sequencing Panel | ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2 |
| Lamellar Ichthyosis Type 1 | 125 | TGM1 Gene Sequencing | TGM1 |
| Long QT Syndrome | 360 | LQTS Sequencing Panel | AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN4B, SCN5A, SNTA1 |
| Marfan Syndrome and Related Disorders | 597 | Marfan Syndrome/TAAD Sequencing Panel | ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2 |
| Mucolipidosis IV | 2431 | MCOLN1 Mutation Analysis (Ashkenazi Jewish) | MCOLN1 |
| Multiple Endocrine Neoplasia 2A | 177 | RET Select Exons Sequencing (MEN2A) | RET |
| Multiple Endocrine Neoplasia 2A | 1791 | RET Remaining Exons Sequencing (MEN2A) | RET |
| Multiple Endocrine Neoplasia 2A; Multiple Endocrine Neoplasia 2B | 1793 | RET Remaining Exons Sequencing (MEN2A & MEN2B) | RET |
| Multiple Endocrine Neoplasia 2B | 178 | RET Select Exons Sequencing (MEN2B) | RET |
| Multiple Endocrine Neoplasia 2B | 1792 | RET Remaining Exons Sequencing (MEN2B) | RET |
| Multiple Endocrine Neoplasia Type 1 | 176 | MEN1 Gene Sequencing | MEN1 |
| Multiple Epiphyseal Dypslasia; Pseudoachondroplasia | 249 | COMP Gene Sequencing | COMP |
| Nemaline Myopathy | 244 | ACTA1 Gene Sequencing | ACTA1 |
| Non-Epidermolytic Palmoplantar Keratoderma (NEPPK) | 2123 | KRT16 Gene Sequencing | KRT16 |
| Non-Epidermolytic Palmoplantar Keratoderma (NEPPK) | 2122 | KRT1 Gene Sequencing | KRT1 |
| Noonan-Related Disorders | 534
357 |
Noonan Spectrum Disorders Sequencing Panel
|
BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SHOC2, SOS1
BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1, EXON 2 OF SHOC2 |
| Pachyonychia Congenita Type 1 | 2091 | KRT6A, KRT16 Hot Spots Sequencing | KRT6A, KRT16 |
| Pachyonychia Congenita Type 1 | 2093 | KRT16 Gene Sequencing (PC1) | KRT16 |
| Pachyonychia Congenita Type 1 | 2094 | KRT6A Gene Sequencing | KRT6A |
| Pachyonychia Congenita Type 1 | 2121 | KRT16 Hot Spots Sequencing | KRT16 |
| Pachyonychia Congenita Type 2 | 2092 | KRT6B, KRT17 Hot Spots Sequencing | KRT6B, KRT17 |
| Pachyonychia Congenita Type 2 | 2095 | KRT17 Gene Sequencing | KRT17 |
| Pachyonychia Congenita Type 2 | 2096 | KRT6B Gene Sequencing | KRT6B |
| Peutz-Jeughers Syndrome | 2071* | STK11 Gene Sequencing & Del/Dup | STK11 |
| Popliteal Pterygium Syndrome; Van der Woude Syndrome | 253 | IRF6 Gene Sequencing | IRF6 |
| Popliteal Pterygium Syndrome | 248 | IRF6 Exon 4 Sequencing | IRF6 |
| Pseudo-Vitamin D-Deficiency Rickets | 185 | CYP27B1 Gene Sequencing | CYP27B1 |
| PTEN-Related Disorders / PTEN Hamartoma Tumor Syndrome | 195* | PTEN Gene Sequencing & Del/Dup | PTEN |
| Severe Combined Immune Deficiency (SCID), DCLRE1C Type; Omenn Syndrome | 1501* | DCLRE1C Gene Sequencing & Deletion | DCLRE1C (ARTEMIS) |
| Severe Combined Immune Deficiency (SCID), DCLRE1C Type; Omenn Syndrome | 1502 | DCLRE1C Athabascan mutation | DCLRE1C (ARTEMIS) |
| Severe Combined Immune Deficiency (SCID), JAK 3 Type | 145 | JAK3 Gene Sequencing | JAK3 |
| Shwachman-Diamond Syndrome | 109 | SBDS Gene Sequencing | SBDS |
| Sjogren Larsson Syndrome | 128 | ALDH3A2 Gene Sequencing | ALDH3A2 |
| Thoracic Aortic Aneurysm and Dissection (TAAD) | 597 | Marfan Syndrome/TAAD Sequencing Panel | ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2 |
| TNF Receptor-Associated-Periodic Syndrome (TRAPS) | 215 | TNFRSF1A Select Exons Sequencing | TNFRSF1A |
| Vohwinkel Syndrome; Keratitis-Ichthyosis-Deafness syndrome (KID syndrome) | 130 | GJB2 Gene Sequencing | GJB2 |
