New England Newborn Screening Program Cystic Fibrosis Variant Panel
CFTR assay utilizes ASR (Analyte Specific Reagent) Tag-It 39+4: 39 variant panel with reflex analysis for I506V, I507V, F508C, 5,7,9T as appropriate
In general, a newborn screening report showing the presence of 2 variants in a single gene makes two assumptions: 1) That the two variants are in trans (phasing of observed variants cannot be confirmed without parental testing), and 2) that any variant observed in the absence its wild-type allele, represents a homozygous genotype, thus the variant is listed twice as though it was independently observed twice (again, confirmation requires other testing for confirmation or to rule out other explanations such as the variant being trans to a deletion).
In CFTR reports indicating the presence of intron 8 polyT tract heterozygosity, no phasing with the reported CFTR alleles can be assumed.
| Variant Colloquial Name | HGVS name |
| G85E | c.254G>A p.(Gly85Glu) |
| 394delTT | c.262_263delTT p.(Leu88IlefsTer22) |
| R117H | c.350G>A p.(Arg117His) |
| Y122X | c.366T>A p.(Tyr122Ter) |
| 621+1G>T | c.489+1G>T |
| 711+1G>T | c.579+1G>T |
| 1078delT | c.948delT p.(Phe316LeufsTer12) |
| R334W | c.1000C>T p.(Arg334Trp) |
| R347H | c.1040G>A p.(Arg347His) |
| R347P | c.1040G>C p.(Arg347Pro) |
| A455E | c.1364C>A p.(Ala455Glu) |
| DI507 | c.1519_1521delATC p.(Ile507del) |
| DF508 | c.1521_1523delCTT p.(Phe508del) |
| V520F | c.1558G>T p.(Val520Phe) |
| 1717-1G>A | c.1585-1G>A |
| G542X | c.1624G>T p.(Gly542Ter) |
| S549N | c.1646G>A p.(Ser549Asn) |
| S549R (T>G) | c.1647T>G p.(Ser549Arg) |
| G551D | c.1652G>A p.(Gly551Asp) |
| R553X | c.1657C>T p.(Arg553Ter) |
| A559T | c.1675G>A p.(Ala559Thr) |
| R560T | c.1679G>C p.(Arg560Thr) |
| 1898+1G>A | c.1766+1G>A |
| 1898+5G>T | c.1766+5G>T |
| 2183AA>G | c.2051_2052delAAinsG p.(Lys684SerfsTer38) |
| 2184delA | c.2052delA p.(Lys684AsnfsTer38) |
| 2307insA | c.2175dupA p.(Glu726ArgfsTer4) |
| 2789+5G>A | c.2657+5G>A |
| 3120+1G>A | c.2988+1G>A |
| Y1092X | c.3276C>G p.(Tyr1092Ter) |
| Y1092X | c.3276C>A p.(Tyr1092Ter) |
| M1101K | c.3302T>A p.(Met1101Lys) |
| R1162X | c.3484C>T p.(Arg1162Ter) |
| 3659delC | c.3528delC p.(Lys1177SerfsTer15) |
| 3849+10kbC>T | c.3718-2477C>T |
| 3876delA | c.3744delA p.(Lys1250ArgfsTer9) |
| S1255X | c.3764C>A p.(Ser1255Ter) |
| 3905insT | c.3773dupT p.(Leu1258PhefsTer7) |
| W1282X | c.3846G>A p.(Trp1282Ter) |
| N1303K | c.3909C>G p.(Asn1303Lys) |
| I506V | c.1516A>G p.(Ile506Val) |
| I507V | c.1519A>G p.(Ile507Val) |
| F508C | c.1523T>G p.(Phe508Cys) |
| 5T | c.1210-12T[5] |
| 7T | c.1210-12T[7] |
| 9T | c.1210-12T[9] |
New England Newborn Screening Program Galactosemia and MCAD Variant Panels
GALT assay utilizes ASR (Analyte Specific Reagent) Tag-It 9 for the detection of 9 variants
ACADM (MCAD) assay utilizes ASR (Analyte Specific Reagent) Tag-It 1 for the detection of 1 variant
GALT Variant Panel
|
Variant Colloquial Name |
HGVS name |
|
IVS2-2A>G |
c.253-2A>G |
|
S135L |
c.404C>T p.(Ser135Leu) |
|
T138M |
c.413C>T p.(Thr138Met) |
|
F171S |
c.512T>C p.(Phe171Ser) |
|
Q188R |
c.563A>G p.(Gln188Arg) |
|
L195P |
c.584T>C p.(Leu195Pro) |
|
Y209C |
c.626A>G p.(Tyr209Cys) |
|
K285N |
c.855G>T p.(Lys285Asn) |
|
N314D |
c.940A>G p.(Asn314Asp) |
ACADM (MCAD) Variant Panel
|
Variant Colloquial Name |
HGVS name |
|
985A>G |
c.985A>G (p.Lys329Glu) |
In general, a newborn screening report showing the presence of 2 variants in a single gene makes two assumptions: 1) That the two variants are in trans (phasing of observed variants cannot be confirmed without parental testing), and 2) that any variant observed in the absence its wild-type allele, represents a homozygous genotype, thus the variant is listed twice as though it was independently observed twice (again, confirmation requires other testing for confirmation or to rule out other explanations such as the variant being trans to a deletion).